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.
Highlights
The incidence of breast cancer (BC) in Asia is increasing and approximately 10% of all BC are hereditary
The clinicopathologic features and molecular profile of cancer patients enrolled in the study are seen in table 4
triple negative breast cancer (TNBC) were seen in 23% (3/13), 20% (2/10) and 5%
Summary
The incidence of breast cancer (BC) in Asia is increasing and approximately 10% of all BC are hereditary. The most common genetic variations are transmitted in an autosomal dominant manner. Majority of the tested hereditary BC cases show germline mutation in the tumor suppressor genes. The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of developing breast or ovarian cancers. BRCA1 and BRCA2 genes on 17q12-21, and 13q12-13 respectively, are tumor suppressor genes, which function to maintain genomic stability [2]. Mutations in the BRCA gene do not directly result in tumor formation but instead cause genetic instability and trigger further alterations, including inactivation of other tumor suppressor genes and/or activation of oncogenes, leading to malignant transformation [3]
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