Open AccessINHERITED MUTATION IN BRCA1 AND BRCA2 IN BREAST CANCER
Author(s) -
Devesh Mishra,
Savita Kumari,
Navneeta R. Kumar
Publication year - 2019
Publication title -
international journal of medical and biomedical studies
Language(s) - English
Resource type - Journals
eISSN - 2589-8698
pISSN - 2589-868X
DOI - 10.32553/ijmbs.v3i10.585
Subject(s) - brca2 protein , breast cancer , mutation , cancer research , dna repair , biology , cancer , penetrance , gene , dna damage , genetics , allele , dna , germline mutation , phenotype
BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal, tumor suppressive function whereas high penetrance mutations in these genes cause a loss of tumor suppressive function which correlates with an increased risk of breast cancer.
Keywords: BRCA1; BRCA2; Breast cancer; Mutation; Gene.