Clinical implications of low-penetrance breast cancer susceptibility alleles.
Our understanding of breast cancer genetics is evolving beyond deleterious mutations in BRCA1 and BRCA2. In the past several years, several low- and moderate-risk breast cancer susceptibility alleles have been identified that have a relative risk for breast cancer of < or = 2. The availability of new techniques such as genome-wide association studies ensures that more low-risk alleles will be identified. This article reviews our current understanding of low-penetrance genes, with a specific focus on their clinical implications.
Freisinger
Francis
F
Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA.
Domchek
Susan M
SM
D000368:Aged; D000483:Alleles; D051017:Apoptosis Regulatory Proteins; D019313:BRCA1 Protein / Q000378:metabolism; D024682:BRCA2 Protein / Q000378:metabolism; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012306:Risk
D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases