Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population

Bhargav N Waghela,Ramesh J Pandit,Apurvasinh Puvar,Franky D Shah,Prabhudas S Patel,Hemangini Vora,Harsh Sheth,Bhoomi Tarapara,Shashank Pandya,Chaitanya G Joshi,Madhvi N Joshi

Gene（2023）

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摘要

•Hereditary Breast cancer (BC) and ovarian cancer (OC) pertain to higher mortality and need an early diagnosis.•The whole-exome sequencing (WES), is the powerful techniques of Next Generation Sequencing (NGS) delineated gene variants associated with the HBOC in the west Indian population.•The WES examination provided novel and prevalent variants in the population which could be further studied.

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关键词

Autosomal dominant diseases,HBOC,Next-generation sequencing,Non-BRCA genes,Whole-exome sequencing

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