Disease:Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:612555 , 114480]; also called susceptibility to familial breast-ovarian cancer type 2 (BROVCA2) . BC is an extremely common malignancy , affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease , and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer. ,Disease:Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac , renal , and limb malformations as well as dermal pigmentary changes. ,Function:Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation. ,online information:BRCA2 entry ,polymorphism:Genetic variations in BRCA2 may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor , consisting of overgrowth of uveal melanocytes and often preceded by a uveal nevus. ,PTM:Phosphorylated by ATM upon irradiation-induced DNA damage. ,similarity:Contains 8 BRCA2 repeats. ,subunit:Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2 , enables the recombinational repair and checkpoints functions. Interacts with WDR16. ,tissue specificity:Highest levels of expression in breast and thymus , with slightly lower levels in lung , ovary and spleen. ,
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