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High BRCA1 may protect cancer cells by acting in a pathway that removes the damages in DNA introduced by the platinum drugs. Thus the level of BRCA1 expression is a potentially important tool for tailoring chemotherapy in lung cancer management. [123] [124] Level of BRCA1 expression is also relevant
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
She and her sister Lyndsay Cooper, 32, both carry a BRCA1 mutation, a genetic change that increases one’s risk for breast and ovarian cancer. This means they undergo surveillance, including ...
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]
Mary-Claire King was born on February 27, 1946, to Harvey and Clarice King of Wilmette, Illinois, near Chicago.Her father worked for Standard Oil of Indiana. [1] When King was 15 years old, her childhood best friend died of cancer.
The BRCA1 and BRCA2 genes are centrally involved in HR, DNAdamage repair, end resection, and checkpoint signaling. Mutational signatures of HRD have been identified in over 20% of breast cancers, as well as pancreatic, ovarian, and gastric cancers. BRCA1/2 mutations confer sensitivity to platinum-based chemotherapies.
Triple-negative breast cancer comprises 15–20% of all breast cancer cases [3] and affects more young women or women with a mutation in the BRCA1 gene than other breast cancers. [4] Triple-negative breast cancers comprise a very heterogeneous group of cancers. TNBC is the most challenging breast cancer type to treat. [5]
58202 Ensembl ENSG00000188986 ENSMUSG00000013465 UniProt Q8WX92 Q8C4Y3 RefSeq (mRNA) NM_015456 NM_021393 NM_001310157 RefSeq (protein) NP_056271 NP_001297086 NP_067368 Location (UCSC) Chr 9: 137.26 – 137.27 Mb Chr 2: 25.09 – 25.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cofactor of BRCA1, also known as COBRA1, is a human gene that encodes NELF-B. Function NELF-B is a ...
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