Clinical management of women in BRCAX families: issues and controversies
نویسنده
چکیده
The role of the familial cancer clinic (FCC) is to provide a cancer risk assessment and appropriate cancer risk management advice, but there are certain groups of patients for whom there are no standard risk management guidelines. One such group is women with a strong family history of breast cancer but BRCA genetic testing has not found a germline mutation. As a family history of breast cancer is the commonest reason for referral to FCCs, this clinical scenario is a frequent challenge to us all. This presentation will provide a summary of the literature surrounding: • Breast cancer risk in BRCAX families • Ovarian cancer risk in BRCAX families • Does the presence of male breast cancer affect the breast and ovarian cancer risks for women in BRCAX families
منابع مشابه
Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families
Approximately 25% of hereditary breast cancer cases are associated with a strong familial history which can be explained by mutations in BRCA1 or BRCA2 and other lower penetrance genes. The remaining high-risk families could be classified as BRCAX (non-BRCA1/2) families. Gene expression involving alternative splicing represents a well-known mechanism regulating the expression of multiple transc...
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The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was not attributable to BRCA1 or BRCA2 mutations (BRCAX cases). 72 cell lines from affected women in high-risk breast ovaria...
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A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Laboratory-based methods that can distinguish between carriers of pathogenic mutations and non-carriers are likely to have utility for the classification of these sequence variants. To identify predictors of pathogenic mutation status in fami...
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عنوان ژورنال:
دوره 10 شماره
صفحات -
تاریخ انتشار 2012