• Mehra Golshan, Alex Miron, Asa J Nixon, Judy E Garber, Ethan P Cash, James Dirk Iglehart, Jay R Harris, and Julia S Wong.
• Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115, USA. mgolshan@partners.org
• Am. J. Surg. 2006 Jul 1; 192 (1): 58-62.

BackgroundGermline mutations of BRCA1 and BRCA2 increase the risk for breast cancer. Mutation carriers selecting breast-conservation therapy (BCT) for treatment of operable breast cancer experience a higher rate of new primary breast cancers. We sought to determine the frequency of BRCA1/BRCA2 mutations in women who underwent BCT. Genetic testing results were compared with the prior probability of mutations in either gene.MethodsEighty-nine patients age 39 or younger entered the study. Genetic testing was performed for BRCA1 and BRCA2 and the BRCAPRO model determined the probability of carrying a mutation.ResultsEight mutations were discovered (prevalence, 9.0%). Twenty (22%) uncharacterized sequence variants were found. The prior probability of carrying a mutation was 14%. Mutation carriers had a higher prior probability (.49) compared with women with uncharacterized variants (.09) or with normal genes (.11).ConclusionsBRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.

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