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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 validated five novel pathogenic germline mutations in this cohort, comprising of two frameshift deletions in  BRCA2,  and missense mutations in  BRCA1 ,  BRCA2  and  ERBB2  gene respectively. Furthermore, we have identified three pathogenic mutations and a VUS within three tumor samples, including a sample carrying pathogenic mutations impacting both  TP53  (c.322dupG; a novel frameshift insertion) and  BRCA1  genes (c.116G > A). 22% of tissue samples had a clinically relevant  TP53  mutation. Although the cohort is small, we have found pathogenic mutations to be enriched in  BRCA2  (9.30%, 4/43) compare to  BRCA1  (4.65%, 2/43). The frequency of germline VUS mutations found to be similar in both  BRCA1  (4.65%; 2/43) and  BRCA2  (4.65%; 2/43) compared to  ERBB2  (2.32%; 1/43).    Conclusions  This is the first genetic study of BC predisposition genes in this population, implies that genetic screening through targeted sequencing can detect clinically significant and actionable BC-relevant mutations.    Electronic supplementary material  The online version of this article (10.1186/s12881-019-0881-0) contains supplementary material, which is available to authorized users.

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