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BRCA2 and BRCA2 (/ ˌ b r æ k ə ˈ t uː / [5]) are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2 ; currently BRCA2, DNA repair associated ) are maintained by the HUGO Gene Nomenclature Committee .
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
Scientists have characterized the role of thousands of mutations in the BRCA2 cancer gene, findings that may help reassure worried patients about their cancer risk or guide doctors toward better ...
People with BRCA1 and BRCA2 mutations are recommended to have a transvaginal ultrasound 1-2 times per year. Screening with CA-125 is also recommended.. Prophylactic salpingo-oophorectomy (removal of the ovaries and fallopian tubes to prevent cancer) is recommended at age 35-40 for people with BRCA1 mutations and at age 40-45 for people with BRCA2 mutations. [6]
You’ve had genetic testing and have a known BRCA1 or BRCA2 gene mutation or have a first-degree relative (parent, brother, sister, or child) with a BRCA1 or BRCA2 gene mutation.
The genes BRCA1 and BRCA2 show loss of heterozygosity in samplings of tumors from patients who have germline mutations. [citation needed] BRCA1/2 are genes that produce proteins which regulate the DNA repair pathway by binding to Rad51. [citation needed]
Breast and ovarian cancers: Medicare may cover genetic testing to determine if a person has a mutation in the BRCA1 and BRCA2 genes, which can help identify their risk of breast and ovarian cancers.
BRCA1 and BRCA2 play crucial roles in maintaining genome integrity, mainly through homologous recombination (HR) for DNA double-strand breaks (DSB)repair. The mutations of BRCA1 and BRCA2 can lead to a reduced capacity of HR machinery, increased genomic instability, and elicit a predisposition to malignancies. [2]