OBJECTIVETo evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.

METHODSA total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.

RESULTSOf the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.

CONCLUSIONThe TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Breast Neoplasms ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Exons ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Germ-Line Mutation ; Heterozygote ; Humans ; Li-Fraumeni Syndrome ; ethnology ; genetics ; Male ; Middle Aged ; Pedigree ; Risk Factors ; Tumor Suppressor Protein p53 ; genetics ; Young Adult

【Objective】 To explore the timing of surgical drainage for ureteral calculi with upper urinary tract infection. 【Methods】 Clinical data of 117 cases of ureteral calculi with upper urinary tract infection treated in our hospital during Jan.2018 and Jan.2020 were retrospectively analyzed. According to different treatment methods, the patients were divided into surgical drainage group and non-surgical drainage group. The patients’ age, gender, side of calculi, peak body temperature, time of onset, white blood cell (WBC) count, C-reactive protein (CRP) and other clinical indicators were compared between the two groups. The cutoff value of surgical drainage was determined with receiver operator characteristic (ROC) curve. 【Results】 The patients’ age, peak body temperature, WBC count and CRP level were the influencing factors of surgical drainage (P<0.05). Regression analysis showed that CRP (P<0.001), age (P=0.003) and WBC count (P=0.014) were independent risk factors for surgical drainage. The area under the ROC curve (AUC) of CRP, age, and WBC count were 0.923, 0.601, and 0.796, respectively. The cutoff value of CRP was 29.87 mg/L (sensitivity 79.4%, specificity 90.0%). Logistic regression model showed CRP was a significant clinical predictor. 【Conclusion】 Ureteral calculi with upper urinary tract infection need to be diagnosed and treated in time. Positive anti-infection should be performed during emergency treatment, and surgical drainage could be selected according to the value of CRP.