BRCA gene mutations: A population based review

Autor: Deepti Saksena, Ratika Samtani
Rok vydání: 2019
Předmět:
Zdroj: Gene Reports. 15:100380
ISSN: 2452-0144
DOI: 10.1016/j.genrep.2019.100380
Popis: The present review attempts to etch the distribution pattern of BRCA1 and BRCA2 gene mutations along with variation in their mutational spectrum thus portraying the phenotypic expression of cancer (breast and ovarian) to be population-specific. The molecular studies on BRCA genes have demonstrated that certain BRCA mutations exhibit the propensity to be carried through particular ethnic group/(s), alluding these mutations to be population-specific. For this purpose, literature searches were conducted and systematically reviewed with reference to breast and ovarian cancer-specific mutations in women across various ethnicities. Deleterious BRCA1 variants W1815X in Lebanese; L1780P, c.4883 T > C, c.3627dupA, c.2566 T > C in Koreans; c.981_982delAT in Chinese; Asp232Asn in African-Americans have been found to be associated with breast cancer whereas variants in BRCA2 gene, namely, E1308X, Q742X, 4150G > T among Hispanics; c.3195_3198delTAAT and c.5576_5579delTTAA confined to Chinese were also identified to be ethnic group specific. The risk of ovarian cancer was related to BRCA1 mutations 5382insC and 300 T > G in the east Europeans; His1673del among the Italians; c.4964_4982delCTGGCCTGACCCCAGA AGA, 5382insC, K739X and R1495M and BRCA2 variant 5804del4 in the Hispanics; L1260FfsX6, W1718X, 1824DfsX3, 5587-1del8, E489X (in BRCA1 gene) and, Q1037X, Y1894X (in BRCA2 gene) in the patients of Chinese ancestry. Understanding the prevalence or phenotypic expression of cancer, based upon population-specificity, would aid in future clinical interventions for conducting large-scale genetic screening and counseling programs.
Databáze: OpenAIRE
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