Clinical And Pathological Characteristics Of BRCA1 And BRCA2 Germline Mutations In Shenzhen Breast Cancer

Objective:To analyze the mutation status of BRCA1/2 in breast cancer patients in Shenzhen area,and to study their clinical and pathological characteristics.Methods: A total of 240 breast cancer patients eligible for inclusion in Shenzhen People’s Hospital from July 2016 to December 2021 were selected,and the BRCA1/2 gene was detected by next-generation sequencing technology.The clinical and pathological features were retrospectively analyzed and followed up.Results:1.Of the 240 breast cancer patients,31 patients carried the BRCA mutations,with a mutation rate of 11.4%.The most common mutation was C.3109 C >T,with a total frequency of3 times.2.The age of BRCA carriers ranged from 25 to 55,with a median age of 40.63.1% of BRCA carriers had a family history of related tumors.17 patients underwent mastectomy,and 14 patients underwent breast-conserving surgery.(1 patient underwent prophylactic mastectomy after breast-conserving surgery,and 6 patients underwent risk-reducing salpingo-oophorectomy).BRCA-associated tumors were 0.6 to 4.5cm in size,with an average diameter of 1.55 cm.Postoperative pathology showed that 28 cases were invasive breast carcinoma and 3 cases were ductal carcinoma in situ.There were 6 cases of Luminal A,11 cases of Luminal B,1 case of HER-2 positive and 13 cases of triple negative breast cancer.Triple negative breast cancer was present in 77% of BRCA1-associated tumors.3.During the follow-up period from 2 months to 64 months,5 BRCA carriers developed second primary breast cancer;One patient died after pulmonary metastasis.No recurrence or metastasis was found in the remaining 23 cases.Conclusion:1.The mutation rate of BRCA in breast cancer patients in Shenzhen is 11.4%,and the mutation rate of BRCA2 is higher than BRCA1.2.Compared with sporadic breast cancer,BRCA related tumors had higher histological grade,smaller tumors and higher TNM phase I ratio.3.BRCA1 mutation carriers are more likely to be ER negative,PR negative,high histological grade,high proportion of triple negative breast cancer.The clinicopathological features of BRCA2 related breast tumors were similar to those of noncarriers.