Breast cancer predisposition syndromes.
A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly associated with inherited breast cancer; however, mutations in TP53 and PTEN cause Li-Fraumeni syndrome and Cowden syndrome, respectively, both of which are associated with high lifetime risks of breast cancer. Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies. More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer.
Hemel
Deborah
D
Department of Medicine, Hospital of the University of Pennsylvania, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA.
Domchek
Susan M
SM
D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics; D019683:Penetrance; D017410:Practice Guidelines as Topic; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human