摘要乳腺癌是严重危害女性健康的恶性肿瘤之一,近年来,其发病率在我国逐渐上升并呈年轻化趋势。大量研究已经证实该疾病与雌激素、多种癌基因、抑癌基因相关[1]。其中,5%～10%的乳腺癌和遗传易感性相关,最常见的乳腺癌易感基因是BRCA[2]（breast cancer susceptibility gene,BRCA）。该基因是近年来研究的热点抑癌基因之一,
1Parkin DM, Bray F, Ferlay J, et al. Global cancer statistics, 2002. CA Cancer J Clin,2005,55(2):74-108.
2Peto J,Collins N,Barfoot R,et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early onset breast can- cer. J Natl Cancer Inst, 1999,91 ( 11 ) : 943-949.
3Miki Y,Swensen J,Shattuck-Eidens D,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 1994,266 ( 5182) : 66-71.
4Levy-Lahad E,Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer, 2007,96( 1 ) : 11-15.
5Wang RH,Yu H, Deng CX, et al. A requirement for breastcancer- associated gene 1 (BRCA1) in the spindle check-point .PNAS, 2004,101 : 17108-17113.
6Venkitaraman AR. New breast cancer gene suggests a role for BRCA2 in sporadic cases. Cell, 2002,108 : 171-182.
7Tian Y,Lu XY,Yi K,et al. Research on BRCA2 protein. Chem Life, 2003,23 ( 1 ) : 12-13.
8Ralph S,David ML. In search of the tumour-suppressor functions of BRCA 1 and BRCA 2. Nature,2000,408:429-432.
9Philippe M,Pierre OC,Mary KB,et al. Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families. Cancer Genetics Cytogenet- ics, 2006,169 ( 1 ) : 62-68.
10Coffin JR,Chappuis PO,Begin LR,et al. Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data. Cancer, 2003,97 (3) : 527-536.
二级参考文献21
1Domchek SM,Friebel TM,Neuhansen SL,et al.Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers:a prospective cohort study.Lancet Oncol,2006,7(3):223-229.
2Goffin JR,Chappuis PO,Bégjn LR,et al.Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma:10-year follow-up data.Cancer,2003,97(3):527-536.
3Tassone P,Tagliaferri P,Perrieelli A,et al.BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancercells.BrJ Cancer,2003,88(8):1285-1291.
4Robson M.Is breast conservation a reasonable option for women with BRCA associated breast cancer? Nat Clin Pract Oncol,2007,4(1):10-11.
5van Sprundel TC,Schmidt MK,Rookus MA,et al.Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers.Br J Cancer,2005,93(3):287-292.
6Metcalfe K,Lynch HT,Ghadirian P,et al.Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.J Clin Oncol,2004,22(12):2328-2335.
7Brekelmans CT,Seynaeve C,Menke-Pluymers M,et al.Survival and prognostic factors in BRCA1-associated breast cancer.Ann Oncol,2006,17(3):391-400.
8Wooster R,Weber BL.Breast and ovarian cancer.N Engl J Med,2003,348(23):2339-2347.
9Kwiatkowska E,Teresiak M,Filas V,et al.BRCA2 mutations and androgen receptor expression as independent predictors of outcome of male breast cancer patients.Clin Cancer Res,2003,9(12):4452-4459.
10Planmann M,Seitz S,Frege R,et al.Analysis of DLC-1 expression in human breast cancer.J Cancer Res Clin Oncol,2003,129(6):349-354.
同被引文献46
1Christiansen P, Vejborg I, Kroman N, et al. Position paper: breas* cancer screening, diagnosis, and treatment in Denmark[J]. Aeta oncol,2014,53 (4) :433- 444.
2Zimmermann T. Intimate relationships affected by breast cancer:interventions for eouples[J]. Breast Care, 2015,10 (2) : 102 108.
3Anderson E, Berg J, Black R, et al. Prospective surveil- lance of women with a family history of breast cancer: au- diting the risk threshold[J]. Brit J Cancer,2008, 98(4): 840- 814.
4Tunin R, Uziely B,Woloski-Wruble AC. First degree rela- lives of women with breast cancer: who's providing infor- mation amt support and who'd they prefer[J]. Psycho oncology,2010,19(4) :423-430.
5Bebis H, Altunkurek SZ, Acikel C, et al. Evaluation of breast self-examination(BSE) application in first and sec- ond degree relatives of patients with breast eancer[J]. Asian Pac J Cancer Prey,2013,14(8):4925-4930.
6Dieterich M,Stubert J, Reimer T, et al. Influence of lifes- tyle factors on breast cancer risk[J]. Breast care, 2014,9 (6) :407-414.
7Fuller MS, Lee CI, Elmore JG. Breast cancer screening : an evidence-based update[J]. Med Clin North Am, 2015,99 (3) :451-468.
8Dodd JM, Ahmed S, Karnon J, et al. The cost-effective- ness of providing antenatal lifestyle advice for women who are overweight or obese: the limit randomised trial [J]. BMC Obes, 2015,2 : 14.
