Two decades after BRCA: Setting paradigms in personalized cancer care and prevention Journal Article
| Authors: | Couch, F. J.; Nathanson, K. L.; Offit, K. |
| Article Title: | Two decades after BRCA: Setting paradigms in personalized cancer care and prevention |
| Abstract: | The cloning of the breast cancer susceptibility genes BRCA1 and BRCA2 nearly two decades ago helped set in motion an avalanche of research exploring how genomic information can be optimally applied to identify and clinically care for individuals with a high risk of developing cancer. Genetic testing for mutations in BRCA1, BRCA2, and other breast cancer susceptibility genes has since proved to be a valuable tool for determining eligibility for enhanced screening and prevention strategies, as well as for identifying patients most likely to benefit from a targeted therapy. Here, we discuss the landscape of inherited mutations and sequence variants in BRCA1 and BRCA2, the complexities of determining disease risk when the pathogenicity of sequence variants is uncertain, and current strategies for clinical management of women who carry BRCA1/2 mutations. |
| Keywords: | gene mutation; gene sequence; mutation; review; cancer risk; genetic predisposition to disease; cancer prevention; breast cancer; mastectomy; genetic variability; breast neoplasms; brca1 protein; brca2 protein; molecular cloning; cloning, molecular; tumor suppressor gene; genetic susceptibility; genomics; models, genetic; pathogenicity; genetic screening; clone; landscape; individualized medicine; genotype environment interaction; cancer; humans; human; female; priority journal; decadal variation |
| Journal Title: | Science |
| Volume: | 343 |
| Issue: | 6178 |
| ISSN: | 0036-8075 |
| Publisher: | American Association for the Advancement of Science |
| Date Published: | 2014-03-28 |
| Start Page: | 1466 |
| End Page: | 1470 |
| Language: | English |
| DOI: | 10.1126/science.1251827 |
| PUBMED: | 24675953 |
| PROVIDER: | scopus |
| PMCID: | PMC4074902 |
| DOI/URL: | |
| Notes: | Cited By (since 1996):1 -- Export Date: 1 May 2014 -- CODEN: SCIEA -- Source: Scopus |
