Volume 7, Issue 3, September 2019, Page: 79-86
Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos
Francisco Tria IV, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Daphne Ang, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Jose Jasper Andal, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Frances Victoria Que, Department of Medical Oncology, St. Luke’s Medical Center, Quezon City, Philippines
Loraine Kay Cabral, Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines
Rosil Dimalibot, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Rachelle Arah Salamat, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Ma. Luisa Enriquez, Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines
Sharlynne Bandales, Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines
Raymundo Lo, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Manuelito Madrid, Institute of Pathology, St. Luke’s Medical Center, Quezon City, Philippines
Marcelo Imasa, Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines
Rubi Li, Research and Biotechnology Division, St. Luke’s Medical Center, Quezon City, Philippines
Received: Jul. 6, 2019;       Accepted: Jul. 25, 2019;       Published: Aug. 10, 2019
DOI: 10.11648/j.crj.20190703.12      View  16      Downloads  16
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.
Keywords
Hereditary Breast and Ovarian Cancer Syndrome (HBOC), BRCA1 and BRCA2 Genes, Next Generation Sequencing (NGS), Filipino Breast Cancer
To cite this article
Francisco Tria IV, Daphne Ang, Jose Jasper Andal, Frances Victoria Que, Loraine Kay Cabral, Rosil Dimalibot, Rachelle Arah Salamat, Ma. Luisa Enriquez, Sharlynne Bandales, Raymundo Lo, Manuelito Madrid, Marcelo Imasa, Rubi Li, Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos, Cancer Research Journal. Vol. 7, No. 3, 2019, pp. 79-86. doi: 10.11648/j.crj.20190703.12
Copyright
Copyright © 2019 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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