Identification of a novel germline BRCA2 variant in a male with breast cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 330-333, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928413
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Mutación de Línea Germinal
/
Neoplasias de la Mama Masculina
/
Genómica
/
Proteína BRCA2
/
Genes BRCA2
/
Células Germinativas
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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