Current best practices and rationalistic perspectives in causation-based prevention, early detection and multidisciplinary treatment of breast and gastric cancer

Gastric & Breast Cancer
DOI: 10.2122/gbc.2003.0028


Evaluating cancer risks in BRCA mutation carriers
Inherited mutations that affect a single allele of either BRCA1 or BRCA2 are mainly linked with cancers of the breast, ovary, and fallopian tube, whereas the risks of other cancers as colorectal, pancreas and stomach are rather small. Male carriers have also an increased risk of cancer in the breast, prostate and other sites. BRCA1 is the most important gene for cancer susceptibility in women and BRCA2 for men.
• Biallelic germline mutations in BRCA2 are also associated with the very rare D1 complementation group of Fanconi anaemia (FA).
• Women who are born with mutations in BRCA1, BRCA2 genes have a high lifetime risk of breast and ovarian cancer but the magnitude of this risk is controversial.
Table 1 summarizes the risks in the literature that vary widely among BRCA mutation carriers depending mainly on family history.
• But a latest study on 1,008 New York-area Ashkenazi women (NYBCS; Science 2003, Oct. 24) reverses this status. All the relatives of a case, not only those from high-incidence (multiple-cases) families but even those from low-incidence (single case or distant relatives) families have a high lifetime breast-, ovarian cancer risk if they carry a BRCA1 or BRCA2 mutation (breast cancer [82%, for both BRCA1 and BRCA2] and ovarian cancer [BRCA1: 54%; BRCA2: 23%]).

If these findings are validated, clinically important implications will emerge on genetic testing, involving even distant relatives of a case and on risk-reducing prevention strategy, recommending prophylactic surgery rather than surveillance.

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Online ISSN : 1109 - 7647
   Print ISSN : 1109 - 7655

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last update: 3 February 2004