Familial breast cancer risk

被引：5
|
作者：
Maxwell K.N. [1 ]
Domchek S.M. [2 ]
机构：
[1] Division of Hematology/Oncology, Department of Internal Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia
[2] Abramson Cancer Center, Department of Internal Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia
来源：
Current Breast Cancer Reports | 2013年 / 5卷 / 3期
基金：
美国国家卫生研究院;
关键词：
ATM; BRCA1; BRCA2; Breast cancer; Breast cancer susceptibility; BRIP1; Cancer predisposition syndromes; CDH1; CHEK2; Cowden syndrome; Familial breast cancer; Hereditary breast ovarian cancer syndrome; Li Fraumeni syndrome; Moderate penetrance; PALB2; PTEN; STK11; TP53;
D O I：
10.1007/s12609-013-0117-9
中图分类号：
学科分类号：
摘要：
The most well recognized breast cancer susceptibility genes are BRCA1 and BRCA2. Studies in individuals carrying mutations in these genes have led to clinical care guidelines for screening and prevention. Beyond BRCA1 and BRCA2, mutations in TP53, PTEN, STK11, and CDH1 also significantly increase the risk of breast cancer. Early identification of women at increased risk of breast cancer due to specific genetic susceptibility may lead to enhanced screening and prevention strategies and potentially improved overall survival for this group of patients as has been seen with carriers of BRCA1 and BRCA2 mutations. In addition to high penetrance genes, increasing numbers of genes that confer a moderate risk of breast cancer have been identified such as CHEK2, PALB2, and ATM; however, the clinical application of these genes is much more challenging. This review will discuss both high and moderate penetrance breast cancer susceptibility genes. © 2013 Springer Science+Business Media New York.
引用
收藏
页码：170 / 182
页数：12
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