Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. |
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| Authors: | L S Friedman S A Gayther T Kurosaki D Gordon B Noble G Casey B A Ponder and H Anton-Culver |
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| Institution: | CRC Human Cancer Genetics Research Group, Addenbroke''s Hospital, University of Cambridge, United Kingdom. lsf20@cam.ac.uk |
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| Abstract: | A population-based series of 54 male breast cancer cases from Southern California were analyzed for germ-line mutations in the inherited breast/ovarian cancer genes, BRCA1 and BRCA2. Nine (17%) of the patients had a family history of breast and/or ovarian cancer in at least one first-degree relative. A further seven (13%) of the patients reported breast/ovarian cancer in at least one second-degree relative and in no first-degree relatives. No germ-line BRCA1 mutations were found. Two male breast cancer patients (4% of the total) were found to carry novel truncating mutations in the BRCA2 gene. Only one of the two male breast cancer patients carrying a BRCA2 mutation had a family history of cancer, with one case of ovarian cancer in a first-degree relative. The remaining eight cases (89%) of male breast cancer with a family history of breast/ovarian cancer in first-degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene. |
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