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The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3). [16] The human reference BRCA2 gene contains 27 exons, and the cDNA has 10,254 base pairs [17] coding for a protein of 3418 amino acids. [18] [19]
Inheriting one BRCA1 mutation and one BRCA2 mutation has been reported occasionally; the child's risk for any given type of cancer is the higher risk of the two genes (e.g., the ovarian cancer risk from BRCA1 and the pancreatic cancer risk from BRCA2). Inheriting two BRCA2 mutations produces Fanconi anemia. [9]: 82–85
Harmful mutations in BRCA2 - a gene responsible for repairing damaged DNA - significantly increase the risk of breast, ovarian, prostate and pancreatic cancers. About 45% of women who inherit a ...
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.
The major genetic risk factor for ovarian cancer is a mutation in BRCA1 or BRCA2 genes, or in DNA mismatch repair genes, which is present in 10% of ovarian cancer cases. Only one allele needs to be mutated to place a person at high risk. The gene can be inherited through either the maternal or paternal line, but has variable penetrance.
[28] [29] A second gene, BRCA2, was also found. [27] These two genes, BRCA1 and BRCA2, work to clean up cells in the body that have been harmed by things such as tobacco or just help clean the cells because they have aged. When these genes do not perform these functions, cells will grow and divide quickly, leading to some types of cancers.
This gene encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins ( BRCA1 and BRCA2 ) involved in homology-directed DNA repair (see Figure: Recombinational repair of DNA double-strand damages).
Image source: The Motley Fool. Inovio Pharmaceuticals (NASDAQ: INO) Q3 2024 Earnings Call Nov 14, 2024, 4:30 p.m. ET. Contents: Prepared Remarks. Questions and Answers. Call Participants
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