The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer / 한국유방암학회지

In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.

Application of reserved jejunal feeding tube during postoperative chemotherapy of gastric cancer / 中国医师进修杂志

Objective To evaluate the effects of reserved jejunal feeding tube during postoperative chemotherapy of gastric cancer. Methods Forty-two patients with gastric cancer underwent radical gastrectomy and going to adjuvant chemotherapy,conventional placed jejunal feeding tube. All of the patients weredivided into group A and group B randomly by pathological staging and tumor site, group A reserved jejunal feeding tube and received enteral nutrition through the tube during chemotherapy, and group B non-reservedjejunal feeding tube and been given daily diet,compared nutrition and immune indicators of two groups beforeand after chemotherapy ,compared the rate of vomiting,and observed complications long-term reserved jejunal feeding tube. Results In post-chemotherapy,nutrition and immune indicators of group A were betterthan those of group B, the difference was statistically significant (P＜0.05) ,the rate of vomiting in group Awas significantly lower than that of in group B (X2= 9.75, P＜0.01 ), no serious complieations occurred forlong-term reserved jejunal feeding tube. Conclusions Reserved jejunal feeding tube and received enteralnutrition through the tube during postoperative chemotherapy of gastric cancer can significantly improve the nutritional and immune status. It is safe and reliable, worth promoting.