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107976 Ensembl ENSG00000158019 ENSMUSG00000052139 UniProt Q9NXR7 Q8K3W0 RefSeq (mRNA) NM_001261840 NM_001329112 NM_001329113 NM_001329114 NM_001329115 NM_004899 NM_199191 NM_199192 NM_199193 NM_199194 NM_144541 NM_181279 NM_181280 NM_181281 NM_181282 RefSeq (protein) NP_001248769 NP_001316041 NP_001316042 NP_001316043 NP_001316044 NP_004890 NP_954661 NP_954662 NP_954663 NP_954664 NP_653124 NP ...
Men with a BRCA mutation have a dramatically elevated relative risk of developing breast cancer, but because the overall incidence of breast cancer in men is so low, the absolute risk is equal to or lower than the risk for women without a BRCA mutation. [9]: Ch8 Approximately 1% to 2% of men with a BRCA1 mutation will develop breast cancer by ...
Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ ˌ b r æ k ə ˈ w ʌ n /) gene. [5] Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. [ 6 ]
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.
Women with hereditary nonpolyposis colon cancer (Lynch syndrome), and those with BRCA-1 and BRCA-2 genetic abnormalities are at increased risk. 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.
A mutation in BRCA1 or BRCA2 can confer a lifetime ovarian cancer risk of 40-50% and 10-20% respectively, [15] with BRCA2 mutations strongly associated with better clinical outcomes. A specific tumour protein 53 ( TP53 ) expression pattern in the Fallopian tube epithelium – the ‘p53 signature’ - is thought to be a precursor marker of HGSC.
BRCA 2 has the cytogenetic location 13q12.3 or the q arm of Chromosome 13 at position 12.3. Both genes produce proteins that help repair damaged DNA, keeping the genetic material of the cell stable. A damaged BRCA gene in either location can lead to increased risk of cancer, particularly breast or ovarian in women.
This gene encodes a protein that functions in genome maintenance (double strand break repair). This protein binds to and colocalizes with the breast cancer 2 early onset protein ( BRCA2 ) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [ 5 ]