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Selecting women affected with breast cancer who are most likely to carry a germline mutation in  BRCA1  and applying the most appropriate test methodology remains challenging for cancer genetics services. We sought to test the value of selecting women for  BRCA1  mutation testing on the basis of family history and/or breast tumour morphology criteria as well as the value of testing for large genomic alterations in  BRCA1 .    Methods  We studied women participating in the Breast Cancer Family Registry (BCFR), recruited via population-based sampling, who had been diagnosed with breast cancer before the age of 40 years who had a strong family history of breast or ovarian cancer ( n  = 187) and/or a first primary breast tumour with morphological features consistent with carrying a  BRCA1  germline mutation ( n  = 133; 37 met both criteria). An additional 184 women diagnosed before the age of 40 years who had a strong family history of breast or ovarian cancer and who were not known to carry a germline  BRCA1  mutation were selected from among women who had been recruited into the BCFR from clinical genetics services. These 467 women had been screened for  BRCA1  germline mutations, and we expanded this testing to include a screen for large genomic  BRCA1  alterations using Multiplex Ligation-dependent Probe Amplification.    Results  Twelve large genomic  BRCA1  alterations were identified, including 10 (4%) of the 283 women selected from among the population-based sample. In total, 18 (12%), 18 (19%) and 16 (43%)  BRCA1  mutations were identified in the population-based groups selected on the basis of family history only ( n  = 150), the group selected on the basis of tumour morphology only ( n  = 96) and meeting both criteria ( n  = 37), respectively.    Conclusions  Large genomic alterations accounted for 19% of all  BRCA1  mutations identified. This study emphasises the value of combining information about family history, age at diagnosis and tumour morphology when selecting women for germline  BRCA1  mutation testing as well as including a screen for large genomic alterations.

breast cancer research

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry