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The BC susceptibility gene, BRCA1, is located at chromosome 17q21 and codes for an 1863 amino acid protein involved in gene regulation processes following DNA damage. BRCA2 gene was mapped on chromosome 13q12.3 by positional cloning and translation following its transcription which leads to the formation of a protein with 3,418 amino acids.
BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
BRCA1 is a pleiotropic DDR protein that functions in both checkpoint activation and DNA repair, whereas BRCA2 is a mediator of the core mechanism of homologous recombination.
23 Ιουλ 2023 · Breast cancer genes BRCA1 and BRCA2 are tumor suppressor genes whose mutations significantly increase the likelihood of developing particular types of epithelial malignancies, namely breast and ovarian cancer.
3 Μαρ 2023 · Genetics. Germline pathogenic variants in BRCA1/BRCA2 are associated with ovarian cancer, fallopian tube cancer, primary peritoneal cancer, male breast cancer, prostate cancer, pancreatic cancer, and early-onset breast cancer. BRCA1/BRCA2 -associated cancer risks are inherited in an autosomal dominant manner.
12 Αυγ 2016 · BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination (HR). Cells that lack either BRCA1 or...
4 Απρ 2015 · Supplementary Materials. Go to: Abstract. IMPORTANCE. Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE. To identify mutation-specific cancer risks for carriers of BRCA1/2. DESIGN, SETTING, AND PARTICIPANTS.
