Identification of a novel germline BRCA2 variant in a male with breast cancer.
10.3760/ cma.j.cn511374-20201130-00838
- Author:
Feng ZHANG
1
;
Ke WU
Author Information
1. Department of Pathology, the Fourth Affiliated Hospital of Zhejiang University School of Medicine, Yiwu, Zhejiang 322000, China. 754299058@qq.com.
- Publication Type:Journal Article
- MeSH:
BRCA2 Protein/genetics*;
Breast Neoplasms, Male/genetics*;
Genes, BRCA2;
Genomics;
Germ Cells;
Germ-Line Mutation;
Humans;
Male
- From:
Chinese Journal of Medical Genetics
2022;39(3):330-333
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a male with breast cancer and a sister who had deceased of the disease.
METHODS:Medical and family history of the proband was collected. Next-generation sequencing was carried out to detect potential variant associated with breast cancer, and Sanger sequencing was used to verify the result.
RESULTS:The proband was found to harbor a novel heterozygous c.6018dupT variant of the BRCA2 gene which may cause premature termination of mRNA translation, resulting in a truncated protein. Combined with the family history, the variant was deduced to be a germline mutation. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.6018dupT variant of BRCA2 gene was predicted to be pathogenic (PVS1+PM1/2+PP4).
CONCLUSION:The germline variant of the BRCA2 gene probably underlay the breast cancer in this pedigree.
