BRCA2 is a human tumor suppressor gene; its protein, also called by the synonym breast cancer type 2 susceptibility protein. BRCA2 and BRCA1 are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. By repairing DNA, these proteins play a role in maintaining the stability of the human genome and prevent dangerous gene rearrangements that can lead to hematologic and other cancers. Certain variations of the BRCA2 gene increase risks for breast cancer as part of a hereditary breast–ovarian cancer syndrome. People who have two mutated copies of the BRCA2 gene have one type of Fanconi anemia. Patients with Fanconi anemia are prone to several types of leukemia (a type of blood cell cancer); solid tumors, particularly of the head, neck, skin, and reproductive organs; and bone marrow suppression (reduced blood cell production that leads to anemia). In addition to breast cancer in men and women, mutations in BRCA2 also lead to an increased risk of ovarian, uterine tube, prostate and pancreatic cancer.
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