The study on the mutation of homologous recombination repair associated germline genes in 102 patients with breast cancer
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    Abstract:

    Objective:This study aims to investigate the mutation of homologous recombination repair(HRR)associated germline genes and the correlation between clinical characteristics and mutation status in breast cancer. Methods:The mutation status of 21 HRR associated genes was detected by next-generation sequencing in 102 patients diagnosed with breast cancer in our center. The clinicopathological data of the patients was collected including the age,tumor size,lymph node status,pathological type and family tumor history. The association between the clinical pathological features and mutation status was analyzed. Results:There was no significant statistical difference between patients with mutation of HRR associated genes(BRCA or non-BRCA)and those without any mutation in clinical characteristics such as age,lymph node status,tumor size,pathological type and so on. Patients with BRCA mutation incline to have family history of tumor(95% CI:0.997-6.142,P=0.047),especially for family history of breast/ovarian cancer(95% CI:1.227-9.953,P=0.015). Meanwhile,the mutation rate of ATM in human epidermal growth factor receptor-2(Her-2)positive patients was significantly higher than that in Her-2 negative patients(P=0.045). Conclusion:The family history of tumor,especially of breast/ovarian cancer,is a vital risk factor for BRCA mutation;Her-2 positive breast cancer may be associated with ATM mutation.

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史晓青,王 珏,丁 颖,陈 锐,朱倩男,查小明.102例乳腺癌同源重组修复相关胚系基因突变研究[J].南京医科大学学报(自然科学版英文版),2021,(11):1600-1606.

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  • Received:February 03,2021
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  • Online: December 13,2021
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