A fact sheet about the BRCA1 and BRCA2 genes, what to do if a person tests positive for alterations in one of these genes, and consequences of genetic testing.

Hoja informativa sobre los genes BRCA1 y BRCA2, qué hacer si la prueba de una persona indica que tiene cambios en uno de estos genes y las consecuencias de las pruebas genéticas.

Evidence-based, expert-reviewed summary about the BRCA1 and BRCA2 genes and hereditary breast and ovarian cancer. This summary also contains information about the cancer risks associated with BRCA1/BRCA2, screening, risk-reduction, treatment, and prognosis.

Jan 31, 2025 · This surgery is often used to reduce the risk of ovarian and fallopian tube cancer in those who are at high risk for the disease because of inherited harmful changes in BRCA1, BRCA2, and several other genes.

Gen que da origen a una proteína que repara el ADN dañado. Las mutaciones (cambios) en el gen BRCA2 aumentan mucho el riesgo de presentar cáncer de mama y cáncer de ovario.

Feb 14, 2025 · PALB2 is emerging as the second-most commonly mutated gene in male breast cancer, after BRCA2. Pancreatic Cancer Risk Associated with PALB2 Pathogenic Variants. A study first reported a PALB2 pathogenic variant in an individual with familial pancreatic cancer in 2009 using exome sequencing.

Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, or variant of uncertain significance (VUS).. Positive result. A positive test result means that the laboratory found a genetic change that is associated with an increased cancer risk. Such harmful genetic changes are called pathogenic or likely pathogenic variants.

NCI-funded research helped identify inherited BRCA1 and BRCA2 genetic mutations and their connection to breast and ovarian cancer. From this research, a screening test was also developed to help patients make informed decisions about their health.

Apr 15, 2024 · For women in whom gene testing finds “harmful changes” in the BRCA1 or BRCA2 genes, leading medical groups recommend that they take specific actions to lower their chances of being diagnosed with or dying from breast and ovarian cancer.

Jan 29, 2018 · The Food and Drug Administration has approved olaparib (Lynparza®) to treat metastatic breast cancers that have inherited mutations in the BRCA1 or BRCA2 genes as well as a companion diagnostic test for selecting candidates for the therapy.