[Identification of a novel germline BRCA2 variant in a male with breast cancer].

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.