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Clinical Management of BRCA Mutation Carriers


To understand the role of germline BRCA1/BRCA2 mutations in determining outcome among women treated conservatively for breast cancer, the records of AJ women treated with lumpectomy and radiation therapy for invasive breast cancer were reviewed.[231] Archival pathology material was obtained for analysis of the three founder AJ mutations. Deleterious BRCA mutations were found in 56 (11.3%) of the cases. The rate of ipsilateral cancer for founder mutation carriers was 12% at 10 years compared with 8% for women without mutations (not statistically significant). Women with founder AJ mutations were more than three times more likely than women without mutations to develop contralateral cancer, 27% versus 8% (P = .0001). The same investigators also described a separate case series of 87 women with BRCA mutations who were treated with breast- conserving surgery.[261] They reported a 12.6% rate of ipsilateral breast cancer at a median of 51.8 months, and a 23% rate of contralateral breast cancer at a median of 67.4 months. No control group was included.[261]

A case-control study from the Netherlands compared women with hereditary breast cancer (identified as either BRCA1/BRCA2 positive, or by a strong family history) with women without hereditary breast cancer for treatment outcome after breast conservation therapy. Although rates of ipsilateral breast recurrence were similar at 2 years following diagnosis, by 5 years the rate was twice as high in the hereditary cases (14% vs. 7%) and remained twice as high at 10 and 15 years after diagnosis (30% and 49% in the hereditary group, and 16% and 20% in the sporadic group).[262]

A multi-institution retrospective cohort study compared outcomes after breast conserving treatment between women with known BRCA1/BRCA2 mutations and those whose family history was not suggestive of a hereditary pattern of breast cancer. At 10 years, overall rates of ipsilateral breast cancer were not significantly different. However, BRCA1/BRCA2 mutation status was significantly associated with a risk of ipsilateral breast cancer when those carriers who underwent oophorectomy were removed from the analysis (7.8% for noncarriers vs. 16.3% for carriers). The 10-year estimates for contralateral breast cancer were 3% for noncarriers and 26% for carriers.[77] One study reported an approximately 40% risk of contralateral breast cancer in BRCA mutation carriers, a risk that is reduced by taking tamoxifen or undergoing oophorectomy.[263]

A study of selected patients diagnosed with breast cancer at age 42 years or younger who had undergone conservative therapy were offered genetic testing for BRCA1/BRCA2 mutations. Of 127 participants, 22 were found to have deleterious mutations.[228] At a median of 12.7 years of follow-up, the rate of ipsilateral events was 49% in the mutation carriers and 21% in the noncarriers (P = .007). Clinical and pathological features of the ipsilateral tumors were more consistent with second primaries than with local recurrence. Similarly, the rate of contralateral cancers was 42% in the carriers and 9% in the noncarriers (P = .001). This study has been criticized as having an unacceptable rate of ipsilateral events overall, calling into question the adequacy of the local-regional treatment.[264]


WebMD Public Information from the National Cancer Institute

Last Updated: May 16, 2012
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