Mastectomy Research Today is a free monthly online journal that collates and summarizes the latest research about Mastectomy, including details on breast cancer, prosthesis, recovery, surgery, complications.

The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy.

Golshan M, Miron A, Nixon AJ, Garber JE, Cash EP, Iglehart JD, Harris JR, Wong JS

Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115, USA. mgolshan@partners.org

BACKGROUND: Germline 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. METHODS: Eighty-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. RESULTS: Eight 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). CONCLUSIONS: BRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.

Published 13 June 2006 in Am J Surg, 192(1): 58-62.
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