Mutations of the BRCA1 and BRCA2 genes and the possibilities for predictive testing.
Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for approximately 80% of families containing multiple cases of early-onset female breast cancer. Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. The recent isolation of both genes should make possible the identification of the genetic defect that predisposes affected individuals to breast and ovarian cancer and might lead to the use of genetic information for predictive testing.
Gayther
S A
SA
CRC Human Cancer Genetics Research Group, Addenbrooke's Hospital, Cambridge, UK.
Ponder
B A
BA
D024682:BRCA2 Protein; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D009369:Neoplasms / Q000235:genetics*; D011237:Predictive Value of Tests; D014157:Transcription Factors / Q000235:genetics
D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors