Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

ABSTRACT:

Background

Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to explore the diagnostic yield of targeted sequencing of the high priority BC genes.

Methods

We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes (BRCA1, BRCA2, ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh (n = 52) by using tumor and blood samples.

Results

Blood derived targeted sequencing revealed 25.58% (11/43) clinically relevant mutations (both pathogenic and variants of uncertain significance (VUS)), with 13.95% (6/43) of samples carrying a pathogenic mutations. We have identified and val

SUBMITTER: Akter H 

PROVIDER: S-EPMC6721087 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature