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Title: 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. 23 refs., 1 fig., 5 tabs.
Authors:
; ;  [1]
  1. Univ. of Cambridge (United Kingdom) [and others
Publication Date:
OSTI Identifier:
518510
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 60; Journal Issue: 2; Other Information: PBD: Feb 1997
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; MUTATION FREQUENCY; SPLICING; MALES; HEREDITARY DISEASES; MAMMARY GLANDS; NEOPLASMS; DISEASE INCIDENCE; GENETICS; EPIDEMIOLOGY; OVARIES