What is BRCA2 and what cancers are associated with BRCA2 mutations?


BRCA2 is a very large gene that codes for a large protein consisting of 3,418 amino acid building blocks that has known functions in DNA repair and in controlling cell replication (mitosis). It is a tumor suppressor gene, meaning that an intact BRCA2 gene will prevent cancers from developing by repairing any DNA errors and also by halting cell replication if it senses abnormalities in the genetic makeup of the dividing cells.

BRCA2 was discovered in 1995, shortly after the discovery of BRCA1.

People who carry a mutation (harmful genetic code change) in BRCA2 are at increased risk of breast cancer, ovarian cancer, pancreatic cancer, prostate cancer, and melanoma. The medical literature also shows a slightly increased risk of bone cancer, mouth cancer, pharygeal (throat) cancer, esophageal cancer, gallbladder cancer, bile duct cancer, eye cancer, and stomach cancer.

Male breast cancer is significantly associated with a BRCA2 mutation.




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