BRCA1/2 associated cancer susceptibility: a clinical overview

• Main Author: Lypas Georgios
• Format: Article
• Language: English
• Published: Sciendo 2016-06-01
• Series: Forum of Clinical Oncology
• Subjects: brca1; brca2; cancer susceptibility; cancer genetics; ovarian cancer; breast cancer; genetic counseling; hereditary cancer; parp inhibitors; prophylactic surgery; surveillance
• Online Access: https://doi.org/10.1515/fco-2015-0022

The most frequently identified genetic cause of breast cancer is the germline mutation of BRCA1 and 2 genes. The carriers of these mutations are at high risk for breast and ovarian cancers and increased risk for pancreatic and prostate cancers. Personal and family history are routinely used to identify individuals at risk for carrying such mutations. Genetic counselling is required to guide them through genetic testing and risk management. Positive testing corresponds to a deleterious mutation, whereas negative testing is considered as uninformative; variants of unknown clinical significance are also classified as uninformative.