Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.
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.
Friedman
L S
LS
CRC Human Cancer Genetics Research Group, Addenbroke's Hospital, University of Cambridge, United Kingdom. lsf20@cam.ac.uk
Gayther
S A
SA
Kurosaki
T
T
Gordon
D
D
Noble
B
B
Casey
G
G
Ponder
B A
BA
Anton-Culver
H
H
D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein; D018567:Breast Neoplasms, Male / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors