Background Breast cancer is the most common malignancy in women worldwide. About 5%–10% are due to hereditary predisposition. The contribution of BRCA1/2 mutations to familial breast cancer in Bahrain has not been explored. The objective of this study was to investigate the spectrum of BRCA1/2 genetic variants and estimate their frequencies in familial breast cancer. We also aim to test the efficiency of the next‐generation sequencing (NGS) as a powerful tool for detecting genetic variation within BRCA1/2 genes. Methods Twenty‐five unrelated female patients diagnosed with familial breast cancer were screened for BRCA1/2 variants. All targeted coding exons and exon–intron boundaries of BRCA1/2 genes were amplified with 167 pairs of primers by NGS. Results We have identified two deleterious BRCA1/2 variants in two patients, one in BRCA1 gene (c.4850C>A) and other in BRCA2 gene (c.67+2T>C). In addition to the deleterious variants, we identified 24 distinct missense variants of uncertain significance, 10 of them are seen to confer minor but cumulatively significant risk of breast cancer. Conclusion Our data suggest that BRCA1/2 variants may contribute to the pathogenesis of familial breast cancer in Bahrain. It also shows that NGS is useful tool for screening BRCA1/2 genetic variants of probands and unaffected relatives.

HighlightsBowel obstruction happens to be the main presentation of most of the internal hernias.In its order of occourance transomental hernias are very uncommon and still are seen in present clinical practice mainly after bariatric surgery.We encountered a case of transomental hernia that caused subacute small bowel obstruction in a patient with no previous history of any abdominal operation, i.e. in a virgin abdomen.We would like to highlight the contribution of this case report to signify the presence of transomental hernias even in virgin abdomen unlike popular belief that it may occur in patients who may have undergone bariatric surgery, major liver surgery, etc.Whenever internal hernias are being considered as diagnosis the transomental hernias may also value consideration in a virgin abdomen.

A 57-year-old obese, diabetic woman, presented with 1 day history of purulent umbilical discharge. She was vitally stable and afebrile. Abdominal examination revealed a full abdomen with purulent discharge from the umbilicus, swelling with erythema and induration surrounding the umbilicus. Lab tests were normal. Initial impression was abdominal wall abscess. Ultrasound showed subcutaneous fluid collection. Non-contrast CT showed collection and abdominal wall defect at the umbilicus. On exploration of the abscess cavity, there were two defects (umbilical and supraumbilical) with appendix protruding through the umbilical defect and a part of a small bowel and omentum adherent to the other defect. Wash was given, bowel and omentum were released and appendectomy was performed. Histopathology showed mucinous cystadenoma with periappendicitis. We would like to highlight the rare occurrence of an appendiceal mucinous cystadenoma in such a clinical presentation.