Genetic susceptibility to breast and ovarian cancer.
5-10% of women with breast cancer carry an inherited mutation in either the BRCA1 or BRCA2 genes. These genes confer a very high lifetime risk of breast cancer, ovarian cancer (especially BRCA1) and male breast cancer (especially BRCA2). These genes are large, of essentially unknown function, and surprisingly, play a very small role in the development of tumors in non-predisposed individuals. These genes have now been cloned, a highly automated genetic test developed and high risk populations have been screened to establish the utility of the test. The value to women and preliminary clinically recommendations are discussed.
Skolnick
M H
MH
Myriad Genetics, Inc., Salt Lake City, Utah 84108, USA.
Frank
T
T
Shattuck-Eidens
D
D
Tavtigian
S
S
D019313:BRCA1 Protein / Q000502:physiology; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics*; D004198:Disease Susceptibility; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*; D012308:Risk Management; D014157:Transcription Factors / Q000235:genetics
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors