Inherited breast cancer.
Five to ten percent of breast cancer is attributable to the autosomal dominant inheritance of a high-risk susceptibility gene. There are a number of known inherited cancer syndromes that confer a higher risk of breast cancer. Recently, the BRCA1 gene, which is responsible for 45% of hereditary early-onset breast cancer and for the majority of co-inheritance of breast and ovarian cancer, has been cloned. Another gene that confers an increased risk of breast cancer is the BRCA2 gene, which maps to the long arm of chromosome 13 by linkage analysis. Mutations in BRCA2 account for approximately 40% of hereditary early-onset breast cancer. In addition, at least 7% of breast cancer may occur in women who are heterozygous for mutations in a gene for ataxia-telangiectasia, an autosomal recessive chromosome instability syndrome. Predictive testing for some predisposing conditions is possible through indirect or direct mutation testing. In this article, the genetics of breast cancer are reviewed, and practical concerns for the surgeon in counseling high-risk patients are addressed.
Radford
D M
DM
Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
Zehnbauer
B A
BA
D001260:Ataxia Telangiectasia / Q000150:complications; D019313:BRCA1 Protein; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm; D005260:Female; D005819:Genetic Markers; D006223:Hamartoma Syndrome, Multiple / Q000150:complications; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000150:complications; D009154:Mutation; D009363:Neoplasm Proteins; D018570:Risk Assessment; D014157:Transcription Factors
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors