Gastric & Breast Cancer
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
• 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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ISSN : 1109 - 7647
Print ISSN : 1109 - 7655
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update: 3 February 2004