Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,R...Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.展开更多
BACKGROUND:Family history of hepatocellular carcinoma(HCC) has been identified as a risk factor for the development of the disease.The aim of this study is to evaluate the impact of such a history on HCC patients’ su...BACKGROUND:Family history of hepatocellular carcinoma(HCC) has been identified as a risk factor for the development of the disease.The aim of this study is to evaluate the impact of such a history on HCC patients’ survival.METHODS:Data of all HCC patients(n=4532) managed at our center from 1989 to 2008 were prospectively collected.The patients were quizzed on their various characteristics including family HCC history.RESULTS:Totally 475(10.48%) patients had a family history of HCC.They presented the disease at a significantly earlier age(median 53 vs 59 years,P<0.0001) and at an earlier stage(the United Network for Organ Sharing staging system).They had significantly better liver function in terms of ChildPugh classification and serum albumin and bilirubin levels.Significantly more of them presented the disease without symptoms(44.0% vs 29.4%,P<0.0001).They also had significantly better overall survival under these specifications:patients in the whole study cohort,patients who had minor hepatectomy,patients with stage I disease,patients with stage II disease,and patients with stage III disease.CONCLUSIONS:Contrary to what is generally believed,we found in this study cohort that patients with a family history of HCC had better overall survival than those without such a history.We believe this was in part due to earlier diagnosis of the disease and better liver function in this group of patients.However,the effects of genetic factors on the risk of HCC cannot be overlooked and are yet to be identified.展开更多
AIM To investigate the differences in family history of inflammatory bowel disease(IBD) and clinical outcomes among individuals with Crohn's disease(CD) residing in China and the United States.METHODS We performed...AIM To investigate the differences in family history of inflammatory bowel disease(IBD) and clinical outcomes among individuals with Crohn's disease(CD) residing in China and the United States.METHODS We performed a survey-based cross-sectional study of participants with CD recruited from China and the United States.We compared the prevalence of IBD family history and history of ileal involvement,CD-related surgeries and IBD medications in China and the United States,adjusting for potential confounders.RESULTS We recruited 49 participants from China and 145 from the United States.The prevalence of family history of IBD was significantly lower in China compared with the United States(China:4.1%,United States:39.3%).The three most commonly affected types of relatives were cousin,sibling,and parent in the United States compared with child and sibling in China.Ileal involvement(China:63.3%,United States:63.5%) and surgery for CD(China:51.0%,United States:49.7%) were nearly equivalent in the two countries.CONCLUSION The lower prevalence of familial clustering of IBD in China may suggest that the etiology of CD is less attributed to genetic background or a family-shared environment compared with the United States.Despite the potential difference in etiology,surgery and ileal involvement were similar in the two countries.Examining the changes in family history during the continuing rise in IBD may provide further insight into the etiology of CD.展开更多
Objective We aimed to evaluate the combined effect of a family history of cardiovascular disease(CVD) and high serum C‐reactive protein(CRP) on the stroke incidence in an Inner Mongolian population in China. Meth...Objective We aimed to evaluate the combined effect of a family history of cardiovascular disease(CVD) and high serum C‐reactive protein(CRP) on the stroke incidence in an Inner Mongolian population in China. Methods A prospective cohort study was conducted from June 2002 to July 2012, with 2,544 participants aged 20 years and over from Inner Mongolia, China. We categorized participants into four groups based on the family history of CVD and CRP levels. Results We adjusted for age; sex; smoking; drinking; hypertension; body mass index; waist circumference; and blood glucose, triglycerides, low‐density lipoprotein cholesterol, and high‐density lipoprotein cholesterol levels. Compared with the group with no family history of CVD/low CRP levels, the group with family history of CVD/high CRP levels had a hazard ratio(HR) of 1.78 [95% confidence interval(CI), 1.03‐3.07; P = 0.039] of stroke, and an HR of 2.14(95% CI, 1.09‐4.20; P = 0.027) of ischemic stroke. The HRs of hemorrhagic stroke for the other three groups were not statistically significant(all P 〉 0.05). Conclusion Participants with both a family history of CVD and high CRP levels had the highest stroke incidence, suggesting that high CRP levels may increase stroke risk, especially of ischemic stroke, among individuals with a family history of CVD.展开更多
Background: Gastric cancer is the third most incident malignancy and the fifth leading cause of death in the world. In Brazil, it is the fourth most common tumour in men and the fifth in women. Familial aggregation of...Background: Gastric cancer is the third most incident malignancy and the fifth leading cause of death in the world. In Brazil, it is the fourth most common tumour in men and the fifth in women. Familial aggregation of this tumour is being studied and discussed by experts. Aim: Determine the frequency of family history of cancer in patients with gastric cancer, suggesting familial aggregation or increased risk for hereditary cancer syndromes. Methods: This is a retrospective cross-sectional study carried out from January 2011 to March 2015 at the Department of Abdominal and Pelvic Surgery of the Brazilian National Cancer Institute (INCA). Data were collected from electronic medical records and analyzed using SPSS Statistics? version 20. Results: 873 patients with gastric adenocarcinoma were analyzed. A family history of cancer was reported by 451 patients (51.6%), which reported cancer in 878 relatives, of which 110 (12.6%), reported having more than three relatives with any type of cancer. The most prevalent malignancies among these relatives were gastric cancer (21.3%) and breast cancer (9.5%). Conclusion: Most of the patients had cancer family history, being gastric cancer the most common. The high percentage of cancer family history confirms the importance of collecting this information, whose lack reflects professional negligence, as family history study can serve as a low-cost tool, favoring prevention and early diagnosis, situations where morbidity and mortality are smaller, thus reducing health costs and assistance and preserving lives.展开更多
Objective:To investigate the effects of family history of diabetes mellitus,Gestational Weight Gain(GWG)and Body Mass Index(BMI)before pregnancy on Gestational Diabetes Mellitus(GDM).Method:82 pregnant women with GDM ...Objective:To investigate the effects of family history of diabetes mellitus,Gestational Weight Gain(GWG)and Body Mass Index(BMI)before pregnancy on Gestational Diabetes Mellitus(GDM).Method:82 pregnant women with GDM who were hospitalized and delivered in the obstetrics department of our hospital from September 2017 to September 2019 were selected as the observation group,and 60 pregnant women with normal glucose tolerance test in the same period were selected as the control group;The relationship between family history of diabetes,weight gain during pregnancy and pre-pregnancy Body Mass Index and GDM were analyzed.Results:The age,pre-pregnancy weight and weight gain during pregnancy were significantly higher in the observation group than in the control group(P<0.05),and the family history of diabetes and pre-pregnancy Body Mass Index were higher in the observation group than in the control group(P<0.05),and the differences were statistically significant.Conclusion:It is suggested that family history of diabetes is related to gestational diabetes mellitus.Excessive GWG growth during pregnancy and high Body Mass Index before pregnancy may increase the risk of gestational diabetes mellitus in pregnant women.展开更多
Family history of diabetes(FH+)has been associated with early metabolic alteration including insulin resistance,lipid metabolism,and ectopic fat accumulation even in healthy individuals.1-3 Furthermore,normoglycemic f...Family history of diabetes(FH+)has been associated with early metabolic alteration including insulin resistance,lipid metabolism,and ectopic fat accumulation even in healthy individuals.1-3 Furthermore,normoglycemic firstdegree relatives of type 2 diabetes mellitus(T2DM)have been documented having increased carotid intimamedia thickness_and pro-inflammatory cytokines.4.s Taken together,individuals with FH+,who were otherwise healthy,have shown to possess susceptibility for diabetes mellitus(DM)chronic complication.Hence,this study aimed to investigate whether FH+increased the risk of chronic complications in patients with overt T2DM.展开更多
Background Previous epidemiological studies have consistently found a positive family history of esophageal cancer is associated with a significantly increased risk of the cancer.However,whether the elevated risk coul...Background Previous epidemiological studies have consistently found a positive family history of esophageal cancer is associated with a significantly increased risk of the cancer.However,whether the elevated risk could be attributed to common household exposure or inherited susceptibility is uncertain.This study aimed to highlight the effect of genetic predisposition by noting the significant differences in onset age and multiple primary cancers between esophageal squamous cell carcinoma (ESCC) cases with or without a positive family history of the cancer.Methods Age at onset and the percentage of multiple primary cancers were compared between ESCCs with (n=766) or without (n=1 776) a positive family history of the cancer in a consecutive surgery cohort at the Department of Thoracic Surgery of Hebei Tumor Hospital and the Fourth Hospital of Hebei Medical University.Results Overall,ESCCs with a positive family history of the cancer featured both a significantly younger age of onset and significantly more multiple primary cancers than those with a negative family history (onset age 51.83 vs.53.49 years old,P 〈0.01; percent of multiple primary cancers 5.50% vs.1.70%,x2=25.42,P 〈0.01).Both the differences were evident in subgroup analyses,but did not correlate.While age at onset differed significantly by family history among the male,smoking,and drinking groups,the difference of multiple primary cancers was significant among the otherwise nonsmoking,nondrinking,and younger onset age groups.Conclusions Younger age of onset and multiple primary cancers associated with ESCCs with a positive,as opposed to a negative family history of the cancer,suggest a genetic predisposition.The results of subgroup analyses indicate a younger age of ESCC development results from the interaction of environmental and genetic risk factors,but multiple primary cancers may be related only to genetic predisposition.展开更多
Background:Family clustering of esophageal cancer(EC)has been found in high-risk areas of China.However,the relationships between cancer family history and esophageal cancer and precancerous lesions(ECPL)have not been...Background:Family clustering of esophageal cancer(EC)has been found in high-risk areas of China.However,the relationships between cancer family history and esophageal cancer and precancerous lesions(ECPL)have not been comprehensively reported in recent years.This study aimed to provide evidence for identification of high-risk populations.Methods:This study was conducted in five high-risk areas in China from 2017 to 2019,based on the National Cohort of Esophageal Cancer.The permanent residents aged 40 to 69 years were examined by endoscopy,and pathological examination was performed for suspicious lesions.Information on demographic characteristics,environmental factors,and cancer family history was collected.Unconditional logistic regression was applied to evaluate odds ratios between family history related factors and ECPL.Results:Among 33,008 participants,6143(18.61%)reported positive family history of EC.The proportion of positive family history varied significantly among high-risk areas.After adjusting for risk factors,participants with a family history of positive cancer,gastric and esophageal cancer or EC had 1.49-fold(95%confidence interval[CI]:1.36-1.62),1.52-fold(95%CI:1.38-1.67),or 1.66-fold(95%CI:1.50-1.84)higher risks of ECPL,respectively.Participants with single or multiple first-degree relatives(FDR)of positive EC history had 1.65-fold(95%CI:1.47-1.84)or 1.93-fold(95%CI:1.46-2.54)higher risks of ECPL.Participants with FDRs who developed EC before 35,45,and 50 years of age had 4.05-fold(95%CI:1.30-12.65),2.11-fold(95%CI:1.37-3.25),and 1.91-fold(95%CI:1.44-2.54)higher risks of ECPL,respectively.Conclusions:Participants with positive family history of EC had significantly higher risk of ECPL.This risk increased with the number of EC positive FDRs and EC family history of early onset.Distinctive genetic risk factors of the population in high-risk areas of China require further investigation.Trial registration:ChiCTR-EOC-17010553.展开更多
Background:The association of lipids and cancer has varied greatly among different cancer types,lipid components and study populations.This study is aimed to investigate the association of serum lipids and the risk of...Background:The association of lipids and cancer has varied greatly among different cancer types,lipid components and study populations.This study is aimed to investigate the association of serum lipids and the risk of malignant lesions in esophageal squamous epithelium.Methods:In the"Endoscopic Screening for Esophageal Cancer in China"(ESECC)trial,serum samples were collected and tested for total cholesterol(TC),triglycerides,low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol at the time of subject enrollment.Cases were defined as malignant esophageal lesions identified by baseline endoscopic examination or by follow-up to May 31,2018.Controls were randomly selected using incidence density sampling in the same cohort.Conditional logistic models were applied to identify the association of serum lipids and the risk of malignant esophageal lesions.Effect modification was evaluated by testing interaction terms of the factor under assessment and these serum lipid indicators.Results:No consistent association between serum lipid levels and esophageal malignant lesions were found in a pooled analysis of 211 cases and 2101 controls.For individuals with a family history of esophageal cancer(EC),high TC,and LDL-C were associated with a significantly increased risk of having malignant lesions(odds ratio[OR]Highvs.Low TC=2.22,95%confidence interval[CI]:1.14-4.35;ORHighvs.Low LDL-C=1.93,95%CI:1.01-3.65).However,a negative association was observed in participants without an EC family history(ORHighvs.Low TC=0.69,95%CI:0.48-0.98,Pinteraction=0.002;ORHighvs.Low LDL-C=0.50,95%CI:0.34-0.76,Pinteraction<0.001).Conclusions:In this study,we found that the association of serum lipids and malignant esophageal lesions might be modified by EC family history.The stratified analysis would be crucial for population-based studies investigating the association of serum lipids and cancer.The mechanism by which a family history of EC modifies this association warrants further investigation.展开更多
Prostate cancer (PCa) testing is recommended by most authoritative groups for high-risk men including those with a family history of the disease. However, family history information is often limited by patient knowl...Prostate cancer (PCa) testing is recommended by most authoritative groups for high-risk men including those with a family history of the disease. However, family history information is often limited by patient knowledge and clinician intake, and thus, many men are incorrectly assigned to different risk groups. Alternate methods to assess PCa risk are required. In this review, we discuss how genetic variants, referred to as PCa-risk single-nucleotide polymorphisms, can be used to calculate a genetic risk score (GRS). GRS assigns a relatively unique value to all men based on the number of PCa-risk SNPs that an individual carries. This GRS value can provide a more precise estimate of a man's PCa risk. This is particularly relevant in situations when an individual is unaware of his family history. In addition, GRS has utility and can provide a more precise estimate of risk even among men with a positive family history. It can even distinguish risk among relatives with the same degree of family relationships. Taken together, this review serves to provide support for the clinical utility of GRS as an independent test to provide supplemental information to family history. As such, GRS can serve as a platform to help guide-shared decision-making processes regarding the timing and frequency of PCa testing and biopsies.展开更多
Backgound Essential hypertension (EH) is a polygenic inheritable disease,generally known as a combined result of genetic and environmental elements.It is possible that IR、AngiotensinⅡ(AngⅡ) and NO play importan...Backgound Essential hypertension (EH) is a polygenic inheritable disease,generally known as a combined result of genetic and environmental elements.It is possible that IR、AngiotensinⅡ(AngⅡ) and NO play important roles in the pathogenesis of EH.Methods Sixty normal subjects with a family history of EH,aged 30 to 40 years old,were recruited and randomized into two groups:30 with one parent and 30 with both parents with EH,and 30 subjects without family history of EH as controls.The plasma level of NO was determined by electrophotometer while the plasma level of fast insulin (FINS) and AngⅡ were determined by radioimmuno-assay,and insulin resistance index (IRI) was calculated.Results ① The plasma levels of FINS,AngⅡ,NO increased significantly in study groups compared with those in the control group(P 0.01),while there were no differences in the levels of AngII,NO between the two study groups (P 0.05).② The plasma level of AngII were positively correlated with that of NO(r=0.378,P 0.01).Conclusions The higher levels of IR and plasma AngII and NO exist before the development of EH in normal offspring with a family history of EH,and maybe they are initial agents in the pathogenesis of EH.It indicates that the people with IR and high levels of plasma AngⅡand NO with a family history of EH are at higher risk to develop EH.展开更多
Background: We examined family health history (FHH) as a public health intervention tool in undergraduate students. We hypothesized that the FHH assignment would positively relate to students’ FHH knowledge and healt...Background: We examined family health history (FHH) as a public health intervention tool in undergraduate students. We hypothesized that the FHH assignment would positively relate to students’ FHH knowledge and health and healthcare-seeking behavioral change. Methods: Health professional students’ (n = 103) pre/post-test surveys and research papers were collected in 2011-2012, from a mid-western and southern university in the United States of America, using mixed methods research. Results: The majority of students were aged 18 - 30, women, White, had healthcare access and health insurance, and awareness of the term FHH. Significant logistic regression relationships existed between: 1) helping students understand important strengths and weaknesses in their health and quality of life and outcomes of talking with family and doctors about FHH;and 2) improving students’ understanding of what they needed to do to maintain their health and the outcome statement “FHH tells you about inherited genes.” Key themes from the research papers included actions and FHH and proposed behavioral changes. Conclusions: Quantitative findings supported the relationship between students’ assignment evaluation and knowledge change, while qualitative findings supported relationships between assignment evaluation and knowledge and behavioral change. This study highlights regional differences in students’ FHH and the need to address family support barriers to behavioral change.展开更多
The famous female writer Ma Lihua in her well- known book The Red Mountain Ranges in East Tibet described the social status and influence of the Pangda family.She wrote:"The famous Pangda family in Tibetan pre-mo...The famous female writer Ma Lihua in her well- known book The Red Mountain Ranges in East Tibet described the social status and influence of the Pangda family.She wrote:"The famous Pangda family in Tibetan pre-modern society stands on both展开更多
BACKGROUND Differences in the preoperative characteristics and weight loss outcomes after sleeve gastrectomy(SG)between patients with familial aggregation of obesity(FAO)and patients with sporadic obesity(SO)have not ...BACKGROUND Differences in the preoperative characteristics and weight loss outcomes after sleeve gastrectomy(SG)between patients with familial aggregation of obesity(FAO)and patients with sporadic obesity(SO)have not been elucidated.AIM To explore the impact of SG on weight loss and the alleviation of obesity-related comorbidities in individuals with FAO.METHODS A total of 193 patients with obesity who underwent SG were selected.Patients with FAO/SO were matched 1:1 by propensity score matching and were categorized into 4 groups based on the number of first-degree relatives with obesity(1 SO vs 1FAO,2SO vs 2FAO).The baseline characteristics,weight loss outcomes,prevalence of obesity-related comorbidities and incidence of major surgeryrelated complications were compared between groups.RESULTS We defined FAO as the presence of two or more first-degree relatives with obesity.Patients with FAO did not initially show significant differences in baseline data,short-term postoperative weight loss,or obesity-related comorbidities when compared to patients with SO preoperatively.However,distinctions between the two groups became evident at the two-year mark,with statistically significant differences in both percentage of total weight loss(P=0.006)and percentage of excess weight loss(P<0.001).The FAO group exhibited weaker remission of type 2 diabetes mellitus(T2DM)(P=0.031),hyperlipidemia(P=0.012),and non-alcoholic fatty liver disease(NAFLD)(P=0.003)as well as a lower incidence of acid reflux(P=0.038).CONCLUSION FAO patients is associated with decreased mid-to-long-term weight loss outcomes;the alleviation of T2DM,hyperlipidemia and NAFLD;and decreased incidence of acid reflux postoperatively.展开更多
Background: An interrupted family history, as is the case after taking someone into care, can complicate collecting family anamnesis data. In addition, the interrupted family history itself could be considered part of...Background: An interrupted family history, as is the case after taking someone into care, can complicate collecting family anamnesis data. In addition, the interrupted family history itself could be considered part of a person’s risk profile. Aim and methods: Literature analysis was conducted to examine whether there are scientific studies on health development after placement in out-of-home-care in order to recognise any existing medical characteristics that may be relevant for internal medical care. Results: There are few scientific publications on the health development of people after being placed in out-of-home-care. Direct reactions to the stress of being taken into custody include nausea and fever. However, effects that go beyond the acute situation and last into adulthood have also been described, such as AD(H)D, asthma, diabetes, cancer, hypertension and cardiovascular diseases (myocardial infarction, stroke), epilepsy and increased overall mortality in adulthood. Studies show that not only previous experience but also the stress of being taken into care is triggers for this. Conclusion: Information about a previous institutionalisation can hence be important for internal medical practice. The available scientific literature shows heterogeneous study methodology and no group of people with experience of out-of-home-placement has yet been scientifically accompanied for a long time period. Further studies on this could help to better weigh up the consequences of omitting and conducting an intervention for child/youth protection as well as to improve the medical care for this group of people.展开更多
Objective:The aim of present study is to identify the breast cancer screening barriers among the women with breast cancer of Malwa region of Punjab,India.The study was conducted at three government hospitals represent...Objective:The aim of present study is to identify the breast cancer screening barriers among the women with breast cancer of Malwa region of Punjab,India.The study was conducted at three government hospitals representing almost all districts of Malwa region.Methods:The quantitative research design was followed using empirical research methods.Study was carried out by one-to-one interview by the field investigator and research assistant.Total of 363 breast cancer patient has been interviewed through the scheduled questionnaire and results has been recorded for further analysis.In this study,five barriers are described namely as personal barriers,socio-cultural barriers,economic barriers,healthsystem barriers,and treatment barriers which contains various questions regarding barriers to breast cancer screening.Univariate analysis methods have been used for the analysis to access the socio-demographic profile of women.Data has been obtained with the help of 5-point liker scale.Binary logistic model was chosen.Results:Majority of participants were in the age groups 50-<60 years(3&6%,140/363)and>60 years(31.1%,112/363).Majority of these women(47.4%,171/363)were illiterate and most of them were housewives.The major barriers to breast cancer screening faced by most of the women were having no knowledge about screening services(90.9%,329/363),the importance of early diagnosis(90.9%,329/363),different screening methods(95.5%,347/363)and place of availing screening services(91.2%,330/363)misguided belief in God and fate(81.5%,295/363)and preferring duties than taking care of health(70.2%,254/363).Education qualification(odds ratio[OR]0.74,β'=-0.309,t=-5.357,P=0.000)and socioeconomic class(OR 1.43,β’=0.354,t=3.399,P=0.001)were found to be significant determinant of the barriers among women.Conclusion:The survey was conducted in the women between the age 40-60 years and as an outcome,the unawareness about screening services,fatalistic attitude,fear of being diagnosed with the cancer,low per capita income was found out significant factors that restricted the women for early check-up for the breast cancer.展开更多
Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer pat...Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers.展开更多
Objective To characterize Chinese families in which both parents and at least one child are diagnosed with malignant diseases and provide reference for cancer screening or early detection in people whose both parents ...Objective To characterize Chinese families in which both parents and at least one child are diagnosed with malignant diseases and provide reference for cancer screening or early detection in people whose both parents are diagnosed with cancer.Methods Medical records of all clients to the center of cancer screening and prevention of the National Cancer Center/Cancer Hospital between January 2008 and February 2018 were screened to select families in which both parents and at least one child were diagnosed with malignant diseases.The cancer profiles of fathers,mothers,sons and daughters,their age distribution at diagnosis,and similarity of cancers between two generations were analyzed.The proportions of each cancer in males and females of the cohort were compared with corresponding data from the National Cancer Center Registry of China(NCCRC)in 2013.Results Totally 13S families were identified from records of 33200 clients.Proportion of lung cancer in fathers(40/135,29.6%)and in mothers(38/135,28.1%)were higher than the national data(23.9%in males and 14.9%in females,respectively).The proportion of breast cancer in daughters(35/109,32.1%)was higher than that of mothers(14/135,10.4%)and the national data(17.1%),In 71 father-son pairs of cancer,46.5%(33/71)were of the same systematic disease,and 16.9%(12/71)were of the same cancer.These two indexes were 31.2%(n=34)and 10.1%(n=l 1),respectively in the 109 father-daughter pairs of cancer,36.6%(n=26)and 8.5%(n=6)respectively in the 71 mother-son pairs of cancer,and 31.2%(n=34)and 20.2%(n=20)respectively in the 109 mother-daughter pairs of cancer.Sons were more likely to suffer from cancers originated from the same system as father s cancer than daughters(χ^(2)=4.299,P<0.05),and daughters were more likely to suffer from the same cancer as their mother's cancer than sons(χ^(2)=4.506,P<0.05).The age(mean±standard deviation)of the daughters(52.4±12.7)and the sons(59.4±10.9)at diagnosis were significantly younger than the fathers(65.5±12.2)and the mothers(65.7±12.5)(all P<0.001)・Conclusions For people whose both parents are diagnosed as cancer,screening or early detection examinations should cover a full range of cancers rather than the cancers their father and mother have suffered,or cancers stemmed from the same system as their parents cancers.We suggest screening or early detection program for these special population start earlier than that for the general population,with emphasis on cancers derived from digestive system for males and women-specific cancers,i.e.,breast cancer,ovarian cancer,cervical cancer and uterine cancer for females.展开更多
Prostate cancer (PCa) is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is...Prostate cancer (PCa) is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is largely unknown but is thought to be multifactorial, where inherited genetics plays an important role. In this article, we first briefly review results from studies of familial aggregation and genetic susceptibility to PCa. We then recap key findings of rare and high-penetrance PCa susceptibility genes from linkage studies in PCa families. We devote a significant portion of this article to summarizing discoveries of common and Iow-penetrance PCa risk-associated single-nucleotide polymorphisms (SNPs) from genetic association studies in PCa cases and controls, especially those from genome-wide association studies (GWASs). A strong focus of this article is to review the literature on the potential clinical utility of these implicated genetic markers. Most of these published studies described PCa risk estimation using a genetic score derived from multiple risk-associated SNPs and its utility in determining the need for prostate biopsy. Finally, we comment on the newly proposed concept of genetic score; the notion is to treat it as a marker for genetic predisposition, similar to family history, rather than a diagnostic marker to discriminate PCa patients from non-cancer patients. Available evidence to date suggests that genetic score is an objective and better measurement of inherited risk of PCa than family history. Another unique feature of this article is the inclusion of genetic association studies of PCa in Chinese and Japanese populations.展开更多
文摘Multiple lentigines syndrome is an autosomal dominant genetic disease,and its expressivity and penetrance are variable.It is also known as LEOPARD syndrome(LS).The genes known to be associated with LS include PTPN11,RAF1 and BRAF.The diagnosis of LS(OMIM 151100)is based on the observation of key features in the clinical background.LS caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafénoir spots,electrocardiographic conduction abnormalities,ocular hypertelorism/obstructive cardiomyopathy,pulmonary stenosis,abnormal genitalia,retardation of growth,and deafness.Phenotype overlap complicates clinical discrimination within RASopathies,making the diagnosis of LS more confusing and challenging.Besides,LS patients do not usually present with all these typical clinical features,increasing the possibility of underdiagnosis or misdiagnosis.Herein,we report a case of a 41-year-old male presenting with multiple dark pigmented macules all over the body,thoracic deformity and family history.And we followed up the patients.
文摘BACKGROUND:Family history of hepatocellular carcinoma(HCC) has been identified as a risk factor for the development of the disease.The aim of this study is to evaluate the impact of such a history on HCC patients’ survival.METHODS:Data of all HCC patients(n=4532) managed at our center from 1989 to 2008 were prospectively collected.The patients were quizzed on their various characteristics including family HCC history.RESULTS:Totally 475(10.48%) patients had a family history of HCC.They presented the disease at a significantly earlier age(median 53 vs 59 years,P<0.0001) and at an earlier stage(the United Network for Organ Sharing staging system).They had significantly better liver function in terms of ChildPugh classification and serum albumin and bilirubin levels.Significantly more of them presented the disease without symptoms(44.0% vs 29.4%,P<0.0001).They also had significantly better overall survival under these specifications:patients in the whole study cohort,patients who had minor hepatectomy,patients with stage I disease,patients with stage II disease,and patients with stage III disease.CONCLUSIONS:Contrary to what is generally believed,we found in this study cohort that patients with a family history of HCC had better overall survival than those without such a history.We believe this was in part due to earlier diagnosis of the disease and better liver function in this group of patients.However,the effects of genetic factors on the risk of HCC cannot be overlooked and are yet to be identified.
基金Supported by (in part)Johns Hopkins Institute for Clinical and Translational Research,No.UL1TR001079
文摘AIM To investigate the differences in family history of inflammatory bowel disease(IBD) and clinical outcomes among individuals with Crohn's disease(CD) residing in China and the United States.METHODS We performed a survey-based cross-sectional study of participants with CD recruited from China and the United States.We compared the prevalence of IBD family history and history of ileal involvement,CD-related surgeries and IBD medications in China and the United States,adjusting for potential confounders.RESULTS We recruited 49 participants from China and 145 from the United States.The prevalence of family history of IBD was significantly lower in China compared with the United States(China:4.1%,United States:39.3%).The three most commonly affected types of relatives were cousin,sibling,and parent in the United States compared with child and sibling in China.Ileal involvement(China:63.3%,United States:63.5%) and surgery for CD(China:51.0%,United States:49.7%) were nearly equivalent in the two countries.CONCLUSION The lower prevalence of familial clustering of IBD in China may suggest that the etiology of CD is less attributed to genetic background or a family-shared environment compared with the United States.Despite the potential difference in etiology,surgery and ileal involvement were similar in the two countries.Examining the changes in family history during the continuing rise in IBD may provide further insight into the etiology of CD.
基金supported by the National Natural Science Foundation of China(grants:30972531 and 81320108026)a Project of the Priority Academic Program Development of Jiangsu Higher Education Institutions
文摘Objective We aimed to evaluate the combined effect of a family history of cardiovascular disease(CVD) and high serum C‐reactive protein(CRP) on the stroke incidence in an Inner Mongolian population in China. Methods A prospective cohort study was conducted from June 2002 to July 2012, with 2,544 participants aged 20 years and over from Inner Mongolia, China. We categorized participants into four groups based on the family history of CVD and CRP levels. Results We adjusted for age; sex; smoking; drinking; hypertension; body mass index; waist circumference; and blood glucose, triglycerides, low‐density lipoprotein cholesterol, and high‐density lipoprotein cholesterol levels. Compared with the group with no family history of CVD/low CRP levels, the group with family history of CVD/high CRP levels had a hazard ratio(HR) of 1.78 [95% confidence interval(CI), 1.03‐3.07; P = 0.039] of stroke, and an HR of 2.14(95% CI, 1.09‐4.20; P = 0.027) of ischemic stroke. The HRs of hemorrhagic stroke for the other three groups were not statistically significant(all P 〉 0.05). Conclusion Participants with both a family history of CVD and high CRP levels had the highest stroke incidence, suggesting that high CRP levels may increase stroke risk, especially of ischemic stroke, among individuals with a family history of CVD.
文摘Background: Gastric cancer is the third most incident malignancy and the fifth leading cause of death in the world. In Brazil, it is the fourth most common tumour in men and the fifth in women. Familial aggregation of this tumour is being studied and discussed by experts. Aim: Determine the frequency of family history of cancer in patients with gastric cancer, suggesting familial aggregation or increased risk for hereditary cancer syndromes. Methods: This is a retrospective cross-sectional study carried out from January 2011 to March 2015 at the Department of Abdominal and Pelvic Surgery of the Brazilian National Cancer Institute (INCA). Data were collected from electronic medical records and analyzed using SPSS Statistics? version 20. Results: 873 patients with gastric adenocarcinoma were analyzed. A family history of cancer was reported by 451 patients (51.6%), which reported cancer in 878 relatives, of which 110 (12.6%), reported having more than three relatives with any type of cancer. The most prevalent malignancies among these relatives were gastric cancer (21.3%) and breast cancer (9.5%). Conclusion: Most of the patients had cancer family history, being gastric cancer the most common. The high percentage of cancer family history confirms the importance of collecting this information, whose lack reflects professional negligence, as family history study can serve as a low-cost tool, favoring prevention and early diagnosis, situations where morbidity and mortality are smaller, thus reducing health costs and assistance and preserving lives.
文摘Objective:To investigate the effects of family history of diabetes mellitus,Gestational Weight Gain(GWG)and Body Mass Index(BMI)before pregnancy on Gestational Diabetes Mellitus(GDM).Method:82 pregnant women with GDM who were hospitalized and delivered in the obstetrics department of our hospital from September 2017 to September 2019 were selected as the observation group,and 60 pregnant women with normal glucose tolerance test in the same period were selected as the control group;The relationship between family history of diabetes,weight gain during pregnancy and pre-pregnancy Body Mass Index and GDM were analyzed.Results:The age,pre-pregnancy weight and weight gain during pregnancy were significantly higher in the observation group than in the control group(P<0.05),and the family history of diabetes and pre-pregnancy Body Mass Index were higher in the observation group than in the control group(P<0.05),and the differences were statistically significant.Conclusion:It is suggested that family history of diabetes is related to gestational diabetes mellitus.Excessive GWG growth during pregnancy and high Body Mass Index before pregnancy may increase the risk of gestational diabetes mellitus in pregnant women.
文摘Family history of diabetes(FH+)has been associated with early metabolic alteration including insulin resistance,lipid metabolism,and ectopic fat accumulation even in healthy individuals.1-3 Furthermore,normoglycemic firstdegree relatives of type 2 diabetes mellitus(T2DM)have been documented having increased carotid intimamedia thickness_and pro-inflammatory cytokines.4.s Taken together,individuals with FH+,who were otherwise healthy,have shown to possess susceptibility for diabetes mellitus(DM)chronic complication.Hence,this study aimed to investigate whether FH+increased the risk of chronic complications in patients with overt T2DM.
文摘Background Previous epidemiological studies have consistently found a positive family history of esophageal cancer is associated with a significantly increased risk of the cancer.However,whether the elevated risk could be attributed to common household exposure or inherited susceptibility is uncertain.This study aimed to highlight the effect of genetic predisposition by noting the significant differences in onset age and multiple primary cancers between esophageal squamous cell carcinoma (ESCC) cases with or without a positive family history of the cancer.Methods Age at onset and the percentage of multiple primary cancers were compared between ESCCs with (n=766) or without (n=1 776) a positive family history of the cancer in a consecutive surgery cohort at the Department of Thoracic Surgery of Hebei Tumor Hospital and the Fourth Hospital of Hebei Medical University.Results Overall,ESCCs with a positive family history of the cancer featured both a significantly younger age of onset and significantly more multiple primary cancers than those with a negative family history (onset age 51.83 vs.53.49 years old,P 〈0.01; percent of multiple primary cancers 5.50% vs.1.70%,x2=25.42,P 〈0.01).Both the differences were evident in subgroup analyses,but did not correlate.While age at onset differed significantly by family history among the male,smoking,and drinking groups,the difference of multiple primary cancers was significant among the otherwise nonsmoking,nondrinking,and younger onset age groups.Conclusions Younger age of onset and multiple primary cancers associated with ESCCs with a positive,as opposed to a negative family history of the cancer,suggest a genetic predisposition.The results of subgroup analyses indicate a younger age of ESCC development results from the interaction of environmental and genetic risk factors,but multiple primary cancers may be related only to genetic predisposition.
基金National Natural Science Foundation of China(Nos.81903402,81974493)the National Key R&D Program of China(Nos.2016YFC0901404,2018YFC1311704)the Chinese Academic of Medical Sciences Innovation Fund for Medical Sciences(No.2019-I2M-2-004)。
文摘Background:Family clustering of esophageal cancer(EC)has been found in high-risk areas of China.However,the relationships between cancer family history and esophageal cancer and precancerous lesions(ECPL)have not been comprehensively reported in recent years.This study aimed to provide evidence for identification of high-risk populations.Methods:This study was conducted in five high-risk areas in China from 2017 to 2019,based on the National Cohort of Esophageal Cancer.The permanent residents aged 40 to 69 years were examined by endoscopy,and pathological examination was performed for suspicious lesions.Information on demographic characteristics,environmental factors,and cancer family history was collected.Unconditional logistic regression was applied to evaluate odds ratios between family history related factors and ECPL.Results:Among 33,008 participants,6143(18.61%)reported positive family history of EC.The proportion of positive family history varied significantly among high-risk areas.After adjusting for risk factors,participants with a family history of positive cancer,gastric and esophageal cancer or EC had 1.49-fold(95%confidence interval[CI]:1.36-1.62),1.52-fold(95%CI:1.38-1.67),or 1.66-fold(95%CI:1.50-1.84)higher risks of ECPL,respectively.Participants with single or multiple first-degree relatives(FDR)of positive EC history had 1.65-fold(95%CI:1.47-1.84)or 1.93-fold(95%CI:1.46-2.54)higher risks of ECPL.Participants with FDRs who developed EC before 35,45,and 50 years of age had 4.05-fold(95%CI:1.30-12.65),2.11-fold(95%CI:1.37-3.25),and 1.91-fold(95%CI:1.44-2.54)higher risks of ECPL,respectively.Conclusions:Participants with positive family history of EC had significantly higher risk of ECPL.This risk increased with the number of EC positive FDRs and EC family history of early onset.Distinctive genetic risk factors of the population in high-risk areas of China require further investigation.Trial registration:ChiCTR-EOC-17010553.
基金supported by grants from the Charity Project of the National Ministry of Health(No.201202014)the Natural Science Foundation of China(Nos.82073626 and 81773501)+5 种基金the National Key R&D Program of China(No.2016YFC0901404)the National Science&Technology Fundamental Resources Investigation Program of China(No.2019FY101102)the Beijing-Tianjin-Hebei Basic Research Cooperation Project(No.J200016)the Digestive Medical Coordinated Development Center of Beijing Hospitals Authority(No.XXZ0204)the Beijing Natural Science Foundation(No.7182033)the Science Foundation of Peking University Cancer Hospital(No.2020-7)。
文摘Background:The association of lipids and cancer has varied greatly among different cancer types,lipid components and study populations.This study is aimed to investigate the association of serum lipids and the risk of malignant lesions in esophageal squamous epithelium.Methods:In the"Endoscopic Screening for Esophageal Cancer in China"(ESECC)trial,serum samples were collected and tested for total cholesterol(TC),triglycerides,low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol at the time of subject enrollment.Cases were defined as malignant esophageal lesions identified by baseline endoscopic examination or by follow-up to May 31,2018.Controls were randomly selected using incidence density sampling in the same cohort.Conditional logistic models were applied to identify the association of serum lipids and the risk of malignant esophageal lesions.Effect modification was evaluated by testing interaction terms of the factor under assessment and these serum lipid indicators.Results:No consistent association between serum lipid levels and esophageal malignant lesions were found in a pooled analysis of 211 cases and 2101 controls.For individuals with a family history of esophageal cancer(EC),high TC,and LDL-C were associated with a significantly increased risk of having malignant lesions(odds ratio[OR]Highvs.Low TC=2.22,95%confidence interval[CI]:1.14-4.35;ORHighvs.Low LDL-C=1.93,95%CI:1.01-3.65).However,a negative association was observed in participants without an EC family history(ORHighvs.Low TC=0.69,95%CI:0.48-0.98,Pinteraction=0.002;ORHighvs.Low LDL-C=0.50,95%CI:0.34-0.76,Pinteraction<0.001).Conclusions:In this study,we found that the association of serum lipids and malignant esophageal lesions might be modified by EC family history.The stratified analysis would be crucial for population-based studies investigating the association of serum lipids and cancer.The mechanism by which a family history of EC modifies this association warrants further investigation.
文摘Prostate cancer (PCa) testing is recommended by most authoritative groups for high-risk men including those with a family history of the disease. However, family history information is often limited by patient knowledge and clinician intake, and thus, many men are incorrectly assigned to different risk groups. Alternate methods to assess PCa risk are required. In this review, we discuss how genetic variants, referred to as PCa-risk single-nucleotide polymorphisms, can be used to calculate a genetic risk score (GRS). GRS assigns a relatively unique value to all men based on the number of PCa-risk SNPs that an individual carries. This GRS value can provide a more precise estimate of a man's PCa risk. This is particularly relevant in situations when an individual is unaware of his family history. In addition, GRS has utility and can provide a more precise estimate of risk even among men with a positive family history. It can even distinguish risk among relatives with the same degree of family relationships. Taken together, this review serves to provide support for the clinical utility of GRS as an independent test to provide supplemental information to family history. As such, GRS can serve as a platform to help guide-shared decision-making processes regarding the timing and frequency of PCa testing and biopsies.
文摘Backgound Essential hypertension (EH) is a polygenic inheritable disease,generally known as a combined result of genetic and environmental elements.It is possible that IR、AngiotensinⅡ(AngⅡ) and NO play important roles in the pathogenesis of EH.Methods Sixty normal subjects with a family history of EH,aged 30 to 40 years old,were recruited and randomized into two groups:30 with one parent and 30 with both parents with EH,and 30 subjects without family history of EH as controls.The plasma level of NO was determined by electrophotometer while the plasma level of fast insulin (FINS) and AngⅡ were determined by radioimmuno-assay,and insulin resistance index (IRI) was calculated.Results ① The plasma levels of FINS,AngⅡ,NO increased significantly in study groups compared with those in the control group(P 0.01),while there were no differences in the levels of AngII,NO between the two study groups (P 0.05).② The plasma level of AngII were positively correlated with that of NO(r=0.378,P 0.01).Conclusions The higher levels of IR and plasma AngII and NO exist before the development of EH in normal offspring with a family history of EH,and maybe they are initial agents in the pathogenesis of EH.It indicates that the people with IR and high levels of plasma AngⅡand NO with a family history of EH are at higher risk to develop EH.
文摘Background: We examined family health history (FHH) as a public health intervention tool in undergraduate students. We hypothesized that the FHH assignment would positively relate to students’ FHH knowledge and health and healthcare-seeking behavioral change. Methods: Health professional students’ (n = 103) pre/post-test surveys and research papers were collected in 2011-2012, from a mid-western and southern university in the United States of America, using mixed methods research. Results: The majority of students were aged 18 - 30, women, White, had healthcare access and health insurance, and awareness of the term FHH. Significant logistic regression relationships existed between: 1) helping students understand important strengths and weaknesses in their health and quality of life and outcomes of talking with family and doctors about FHH;and 2) improving students’ understanding of what they needed to do to maintain their health and the outcome statement “FHH tells you about inherited genes.” Key themes from the research papers included actions and FHH and proposed behavioral changes. Conclusions: Quantitative findings supported the relationship between students’ assignment evaluation and knowledge change, while qualitative findings supported relationships between assignment evaluation and knowledge and behavioral change. This study highlights regional differences in students’ FHH and the need to address family support barriers to behavioral change.
文摘The famous female writer Ma Lihua in her well- known book The Red Mountain Ranges in East Tibet described the social status and influence of the Pangda family.She wrote:"The famous Pangda family in Tibetan pre-modern society stands on both
文摘BACKGROUND Differences in the preoperative characteristics and weight loss outcomes after sleeve gastrectomy(SG)between patients with familial aggregation of obesity(FAO)and patients with sporadic obesity(SO)have not been elucidated.AIM To explore the impact of SG on weight loss and the alleviation of obesity-related comorbidities in individuals with FAO.METHODS A total of 193 patients with obesity who underwent SG were selected.Patients with FAO/SO were matched 1:1 by propensity score matching and were categorized into 4 groups based on the number of first-degree relatives with obesity(1 SO vs 1FAO,2SO vs 2FAO).The baseline characteristics,weight loss outcomes,prevalence of obesity-related comorbidities and incidence of major surgeryrelated complications were compared between groups.RESULTS We defined FAO as the presence of two or more first-degree relatives with obesity.Patients with FAO did not initially show significant differences in baseline data,short-term postoperative weight loss,or obesity-related comorbidities when compared to patients with SO preoperatively.However,distinctions between the two groups became evident at the two-year mark,with statistically significant differences in both percentage of total weight loss(P=0.006)and percentage of excess weight loss(P<0.001).The FAO group exhibited weaker remission of type 2 diabetes mellitus(T2DM)(P=0.031),hyperlipidemia(P=0.012),and non-alcoholic fatty liver disease(NAFLD)(P=0.003)as well as a lower incidence of acid reflux(P=0.038).CONCLUSION FAO patients is associated with decreased mid-to-long-term weight loss outcomes;the alleviation of T2DM,hyperlipidemia and NAFLD;and decreased incidence of acid reflux postoperatively.
文摘Background: An interrupted family history, as is the case after taking someone into care, can complicate collecting family anamnesis data. In addition, the interrupted family history itself could be considered part of a person’s risk profile. Aim and methods: Literature analysis was conducted to examine whether there are scientific studies on health development after placement in out-of-home-care in order to recognise any existing medical characteristics that may be relevant for internal medical care. Results: There are few scientific publications on the health development of people after being placed in out-of-home-care. Direct reactions to the stress of being taken into custody include nausea and fever. However, effects that go beyond the acute situation and last into adulthood have also been described, such as AD(H)D, asthma, diabetes, cancer, hypertension and cardiovascular diseases (myocardial infarction, stroke), epilepsy and increased overall mortality in adulthood. Studies show that not only previous experience but also the stress of being taken into care is triggers for this. Conclusion: Information about a previous institutionalisation can hence be important for internal medical practice. The available scientific literature shows heterogeneous study methodology and no group of people with experience of out-of-home-placement has yet been scientifically accompanied for a long time period. Further studies on this could help to better weigh up the consequences of omitting and conducting an intervention for child/youth protection as well as to improve the medical care for this group of people.
基金funded by Indian Council of Social Science Research under Impress scheme(Project Grant No.P830 and Grant No.IMPRESS/P830/149/2018-19).
文摘Objective:The aim of present study is to identify the breast cancer screening barriers among the women with breast cancer of Malwa region of Punjab,India.The study was conducted at three government hospitals representing almost all districts of Malwa region.Methods:The quantitative research design was followed using empirical research methods.Study was carried out by one-to-one interview by the field investigator and research assistant.Total of 363 breast cancer patient has been interviewed through the scheduled questionnaire and results has been recorded for further analysis.In this study,five barriers are described namely as personal barriers,socio-cultural barriers,economic barriers,healthsystem barriers,and treatment barriers which contains various questions regarding barriers to breast cancer screening.Univariate analysis methods have been used for the analysis to access the socio-demographic profile of women.Data has been obtained with the help of 5-point liker scale.Binary logistic model was chosen.Results:Majority of participants were in the age groups 50-<60 years(3&6%,140/363)and>60 years(31.1%,112/363).Majority of these women(47.4%,171/363)were illiterate and most of them were housewives.The major barriers to breast cancer screening faced by most of the women were having no knowledge about screening services(90.9%,329/363),the importance of early diagnosis(90.9%,329/363),different screening methods(95.5%,347/363)and place of availing screening services(91.2%,330/363)misguided belief in God and fate(81.5%,295/363)and preferring duties than taking care of health(70.2%,254/363).Education qualification(odds ratio[OR]0.74,β'=-0.309,t=-5.357,P=0.000)and socioeconomic class(OR 1.43,β’=0.354,t=3.399,P=0.001)were found to be significant determinant of the barriers among women.Conclusion:The survey was conducted in the women between the age 40-60 years and as an outcome,the unawareness about screening services,fatalistic attitude,fear of being diagnosed with the cancer,low per capita income was found out significant factors that restricted the women for early check-up for the breast cancer.
基金supported by grants from National Natural Science Foundation of China(Grant Nos.81974422,81772824,and 81802635)。
文摘Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers.
基金the National Key R&D Program of China(2017YFC1308700)Peking Union Medical College Discipline Development Project(201920200303).
文摘Objective To characterize Chinese families in which both parents and at least one child are diagnosed with malignant diseases and provide reference for cancer screening or early detection in people whose both parents are diagnosed with cancer.Methods Medical records of all clients to the center of cancer screening and prevention of the National Cancer Center/Cancer Hospital between January 2008 and February 2018 were screened to select families in which both parents and at least one child were diagnosed with malignant diseases.The cancer profiles of fathers,mothers,sons and daughters,their age distribution at diagnosis,and similarity of cancers between two generations were analyzed.The proportions of each cancer in males and females of the cohort were compared with corresponding data from the National Cancer Center Registry of China(NCCRC)in 2013.Results Totally 13S families were identified from records of 33200 clients.Proportion of lung cancer in fathers(40/135,29.6%)and in mothers(38/135,28.1%)were higher than the national data(23.9%in males and 14.9%in females,respectively).The proportion of breast cancer in daughters(35/109,32.1%)was higher than that of mothers(14/135,10.4%)and the national data(17.1%),In 71 father-son pairs of cancer,46.5%(33/71)were of the same systematic disease,and 16.9%(12/71)were of the same cancer.These two indexes were 31.2%(n=34)and 10.1%(n=l 1),respectively in the 109 father-daughter pairs of cancer,36.6%(n=26)and 8.5%(n=6)respectively in the 71 mother-son pairs of cancer,and 31.2%(n=34)and 20.2%(n=20)respectively in the 109 mother-daughter pairs of cancer.Sons were more likely to suffer from cancers originated from the same system as father s cancer than daughters(χ^(2)=4.299,P<0.05),and daughters were more likely to suffer from the same cancer as their mother's cancer than sons(χ^(2)=4.506,P<0.05).The age(mean±standard deviation)of the daughters(52.4±12.7)and the sons(59.4±10.9)at diagnosis were significantly younger than the fathers(65.5±12.2)and the mothers(65.7±12.5)(all P<0.001)・Conclusions For people whose both parents are diagnosed as cancer,screening or early detection examinations should cover a full range of cancers rather than the cancers their father and mother have suffered,or cancers stemmed from the same system as their parents cancers.We suggest screening or early detection program for these special population start earlier than that for the general population,with emphasis on cancers derived from digestive system for males and women-specific cancers,i.e.,breast cancer,ovarian cancer,cervical cancer and uterine cancer for females.
基金This work was partially funded by the National Key Basic Research Program Grant 973 (No.2012CB518301) to JX, the Key Project of the National Natural Science Foundation of China (No.81130047) to IX, intramural grants from Fudan University 'Thousand Talents Program' and Huashan Hospital to JX and the National Institutes of Health (No.NCI CA129684) to IX.
文摘Prostate cancer (PCa) is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is largely unknown but is thought to be multifactorial, where inherited genetics plays an important role. In this article, we first briefly review results from studies of familial aggregation and genetic susceptibility to PCa. We then recap key findings of rare and high-penetrance PCa susceptibility genes from linkage studies in PCa families. We devote a significant portion of this article to summarizing discoveries of common and Iow-penetrance PCa risk-associated single-nucleotide polymorphisms (SNPs) from genetic association studies in PCa cases and controls, especially those from genome-wide association studies (GWASs). A strong focus of this article is to review the literature on the potential clinical utility of these implicated genetic markers. Most of these published studies described PCa risk estimation using a genetic score derived from multiple risk-associated SNPs and its utility in determining the need for prostate biopsy. Finally, we comment on the newly proposed concept of genetic score; the notion is to treat it as a marker for genetic predisposition, similar to family history, rather than a diagnostic marker to discriminate PCa patients from non-cancer patients. Available evidence to date suggests that genetic score is an objective and better measurement of inherited risk of PCa than family history. Another unique feature of this article is the inclusion of genetic association studies of PCa in Chinese and Japanese populations.