菲律宾人种系Brca1和Brca2突变的患病率

Cancer Research Journal Pub Date : 2019-08-10 DOI:10.11648/J.CRJ.20190703.12

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

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引用次数: 0

摘要

BRCA1或BRCA2肿瘤抑制基因中生殖系突变的存在是乳腺癌或卵巢癌风险的有力预测因子。BRCA1或BRCA2基因的野生型等位基因的缺失是肿瘤发生所必需的。本研究利用下一代测序技术鉴定并鉴定了菲律宾人种系BRCA1和BRCA2突变谱。这是第一个在菲律宾人中进行全面的BRCA1和brca2(所有外显子)突变分析的本地研究。这项研究促进了对独特变异的进一步调查，以便更好地了解菲律宾人患BC的遗传易感性。

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Prevalence of Germline Brca1 and Brca2 Mutation Among Filipinos

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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Cancer Research Journal

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