BRCA1, familial breast-ovarian cancer susceptibility 1
Diagnosis and Testing
What does a positive test result for a BRCA1 gene mutation mean?
A positive test result means that a genetic change was found in the BRCA1 gene that leads to increased risk for cancer. The cancers most commonly associated with BRCA1 gene changes are breast cancer in women and men, ovarian cancer, pancreatic cancer, prostate cancer, and melanoma. A positive test result may change recommendations for cancer risk management. It is also recommended that individuals inform their relatives if they receive a positive result so that they can consider genetic testing themselves. If an individual tests positive for a gene change their first-degree relatives (parents, siblings, and children) have a 50% chance to have the gene change and second-degree relatives (half-siblings, aunts, uncles, nieces, nephews, and grandparents) have a 25% chance to have the gene change.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/brca1-familial-breast-ovarian-cancer-susceptibility-1/diagnosis-testing/7059 • DATE UPDATED: 2019-07-09