Francisco Tria, D. Ang, J. Andal, F. Que, L. K. Cabral, R. Dimalibot, Rachelle Arah Salamat, M. L. Enriquez, Sharlynne Bandales, Raymundo Lo, M. Madrid, M. Imasa, Rubi K. Li
{"title":"Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos","authors":"Francisco Tria, D. Ang, J. Andal, F. Que, L. K. Cabral, R. Dimalibot, Rachelle Arah Salamat, M. L. Enriquez, Sharlynne Bandales, Raymundo Lo, M. Madrid, M. Imasa, Rubi K. Li","doi":"10.11648/J.CRJ.20190703.12","DOIUrl":null,"url":null,"abstract":"The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.","PeriodicalId":9422,"journal":{"name":"Cancer Research Journal","volume":"79 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Research Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11648/J.CRJ.20190703.12","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.
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