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]（br...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,展开更多
Objectives. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-based case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model a...Objectives. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-based case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model and stratification methods were used in the risk factors analysis. Li-Mantel-Gart and Falconer methods were used to analyze the segregation ratio and heritability. Polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis were used to detect AI, G-banding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results. Family history of breast cancer is related to enhanced breast cancer risk significantly, OR is 3905(95%CI=1079～1413), and it widely interacts with other risk factors. Accumulative incidence of breast cancer in first degree relatives is 999%, which is larger than that in second, third degree and non-blood relatives. Segregation ratio is 0021, heritability among first degree relatives is 356±58%. Frequencies of LOH at BRCA1 and BRCA2 loci in sporadic breast cancer are 612% and 577% respectively. In the sibs, both of them show LOH at D13S173 locus, and high frequencies of chromosome aberrations were observed. Conclusions. Genetic susceptibility contributes to breast cancer occurrence of Chinese, and its racial variation may be one of the important reasons for the large difference of incidence between western and eastern countries.展开更多
文摘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,
文摘Objectives. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-based case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model and stratification methods were used in the risk factors analysis. Li-Mantel-Gart and Falconer methods were used to analyze the segregation ratio and heritability. Polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis were used to detect AI, G-banding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results. Family history of breast cancer is related to enhanced breast cancer risk significantly, OR is 3905(95%CI=1079～1413), and it widely interacts with other risk factors. Accumulative incidence of breast cancer in first degree relatives is 999%, which is larger than that in second, third degree and non-blood relatives. Segregation ratio is 0021, heritability among first degree relatives is 356±58%. Frequencies of LOH at BRCA1 and BRCA2 loci in sporadic breast cancer are 612% and 577% respectively. In the sibs, both of them show LOH at D13S173 locus, and high frequencies of chromosome aberrations were observed. Conclusions. Genetic susceptibility contributes to breast cancer occurrence of Chinese, and its racial variation may be one of the important reasons for the large difference of incidence between western and eastern countries.
