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.

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Background: Diabetes is a group of metabolic disorders, characterized by hyperglycemia which results from defects in insulin secretion, insulin action, or both. The prevalence and incidence of type 2 diabetes are rising rapidly worldwide. Diabetes has been linked to a shorter life expectancy mainly because of its complications, including heart disease, strokes, retinopathy, and chronic kidney disease and bone disease. Objective: To examine the relationship between high sensitive C reactive protein (hsCRP) and alkaline phosphatase (ALP) in type 2 diabetic patients. Methods: This study was a hospital based cross sectional study conducted at Dept. of Biochemistry, Ashiyan Medical College Hospital from January to June 2020. The study consists of 180 patients out of which 90 were normal healthy controls (Group I) and 90 patients having type 2 DM were included in case (Group II). FBS, PPBS, HbA1c, hsCRP and ALP of all subjects were measured. Results: Mean serum hsCRP and ALP level were statistically significant higher in case group compared to control group. Moreover, significant positive correlation was observed between hsCRP and ALP level as well as both with FBS, PPBS and HbA1c. Conclusions: Oxidative stress and inflammation appears to be a key component and also associated with poor glycaemic control and further pathogenesis of diabetes and its complications. All our finding suggest a link between oxidative stress, inflammation and glycaemic control in patient with type 2 diabetes mellitus.