Laboratory Medicine ›› 2019, Vol. 34 ›› Issue (11): 1026-1031.DOI: 10.3969/j.issn.1673-8640.2019.11.015

• Orginal Article • Previous Articles     Next Articles

BRCA1 and BRCA2 gene determinations in breast cancer patients by next-generation sequencing

LI Jinjie, DIAO Yanjun, LI Rui, SU Mingquan, MA Yueyun, HAO Xiaoke, YANG Liu   

  1. Department of Clinical Laboratory,Xijing Hospital,the Fourth Military Medical University,Xi'an 710032,Shaanxi,China
  • Received:2019-05-30 Online:2019-11-30 Published:2019-12-05

Abstract:

Objective To determine the breast cancer susceptibility protien(BRCA)1 and BRCA2 genes by next-generation sequencing,and to investigate the roles of BRCA1 and BRCA2 in screening familial bresst cancer. Methods Totally,7 female breast cancer patients and 12 healthy females without the family history of breast cancer were enrolled. All participants received BRCA1 and BRCA2 gene determinations using next-generation sequencing,and all mutations in the probands were confirmed with Sanger sequencing. The family mumbers of the patient who carried BRCA1 mutation had been determined for the same gene site. Results Of the 7 patients,there was 1 case of BRCA2(c.5073dupA) pathogenic mutation,1 case of BRCA1(c.3343G>T) likely pathogenic mutation and 1 case of BRCA2(c.1211A>T) variant of uncertain significance mutation. None of suspicious mutation was found in healthy females. In the family carrying BRCA1(c.3343G>T),2 cases of breast cancer were found. Conclusions BRCA1(c.3343G>T) has firstly been reported. The family carrying this site shows a high incidence of breast cancer. Therefore,close follow-ups and surgical and drug intervention are recommended for the first-degree relatives of breast cancer patients.

Key words: Breast cancer susceptibility protein 1 gene, Breast cancer susceptibility protein 2 gene, New gene mutation, Familial breast cancer

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