Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing

被引：23

作者：

Gayther, SA

Ponder, BAJ

机构：

[1] CRC Hum. Cancer Genet. Res. Group, Box 238, Addenbrooke's Hospital, Hills Road

来源：

MOLECULAR MEDICINE TODAY | 1997年 / 3卷 / 04期

关键词：

D O I：

10.1016/S1357-4310(97)01017-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for similar to 80% of families containing multiple cases of early-onset female breast cancer. Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. The recent isolation of both genes should make possible the identification of the genetic defect that predisposes affected individuals to breast and ovarian cancer and might lead to the use of genetic information for predictive testing.

引用

页码：168 / 174

页数：7

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