Hereditary ovarian cancer in Ashkenazi Jews

被引：28
作者：
Robles-Díaz L. [1 ]
Goldfrank D. [1 ]
Kauff N. [1 ]
Robson M. [1 ]
Offit K. [1 ]
机构：
[1] Clinical Genetics Service, Department of Medicine, Mem. Sloan-Kettering Cancer C.
来源：
Familial Cancer | 2004年 / 3卷 / 3-4期
关键词：
Ashkenazi; BRCA mutation; BRCA1; BRCA2; genetic cancer predisposition; HNPCC; ovarian cancer;
D O I：
10.1007/s10689-004-9552-0
中图分类号：
学科分类号：
摘要：
Ovarian cancer is the fourth leading cause of cancer deaths among American women. While women in both the Ashkenazi and non-Ashkenazi populations have an estimated 1.7% lifetime risk of acquiring malignancy, the proportion of hereditary ovarian cancer is much higher in the Ashkenazim. Most of this increased proportion of hereditary ovarian cancer risk is accounted for by inherited mutations in the BRCA1 and BRCA2 genes. In the Ashkenazi Jewish population, 29 to 41% of ovarian cancer is believed to be secondary to inheriting one of three founder mutations in BRCA1 and BRCA2, while only 10% of ovarian cancer is attributed to mutations of these genes in non-Ashkenazim. In the US population in general, it is estimated that between 1 out of 345 and 1 out of 1000 individuals carries a BRCA mutation, compared with approximately 1 in 40 individuals of Ashkenazi Jewish descent. The ovarian cancer risk up to age 70 associated with BRCA mutation carriers has been reported to be as high as 66% for BRCA1 and 27% for BRCA2 mutation carriers. Ovarian cancer in Ashkenazi kindreds has served as a model for the study of the histopathology of inherited ovarian cancers as well as for the study of risk reduction and screening among all women at inherited risk of ovarian cancer.
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页码：259 / 264
页数：5
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