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.

Analysis of related factors influencing the main extended direction of pituitary macroadenoma / 中华内分泌外科杂志

Objective To investigate the related influence factors of the main extended direction of the pituitary macroadenoma in the vertical direction.Methods Clinical data of 184 pituitary macroadenoma patients were collected and analyzed retrospectively.The main extended direction in the vertical direction of the tumor was taken as the dependent variables.Patients were divided into two groups according to the suprasellar extension value of each tumor,(ie:suprasellar extension value＞0 and suprasellar extension value≤0).10 selected indicators (age,sex,tumor type,diameter of diaphragmatic opening,sphenoid sinus type,sella type morphology,main sphenoid sinus septum bias,maximum width of sphenoid sinus septum,tumor cyst,number of longitudinal sphenoid sinus septum) were taken as independent variables and the factors which may influence the main extended direction were analyzed and selected by logistic regression method.Results Among the 184 patients,there were 121 cases extending mainly to the suprasellar direction,while the left cases extending mainly to the opposite direction.Statistical analysis showed the tumor type (P=0.026),sphenoid sinus type (P=0.003),sella type morphology (P=0.046),diameter of diaphragmatic opening (P=0.003) and maximum width of the sphenoid sinus septum (P=0.009) were the independent predictors influencing the main expansion direction of pituitary macroadenomas in the vertical direction.Conclusions The pituitary macroadenoma is more likely to expand infrasellar in patients with sellar or sellaoccipital sphenoid sinus,sac sella turcica morphology,GH adenoma,smaller diaphragmatic opening diameter and narrower width of sphenoid sinus septum.The pituitary macroadenoma is more likely to expand suprasellar in patients with presellar sphenoid sinus,wok and cylinder sella turcica morphology,nonGH adenoma,larger diaphragmatic opening diameter and wider width of sphenoid sinus septum.