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Войти в исследования Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Identification of a novel germline BRCA2 variant in a male with breast cancer].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Zhang Feng, Wu Ke
Аннотация
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.
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.