Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate penetrance and variable expressivity. We describe a...

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Detalles Bibliográficos
Autores principales: Guadagnolo, Daniele, Mastromoro, Gioia, Marchionni, Enrica, Germani, Aldo, Libi, Fabio, Sadeghi, Soha, Savio, Camilla, Petrucci, Simona, De Marchis, Laura, Piane, Maria, Pizzuti, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377208/
https://www.ncbi.nlm.nih.gov/pubmed/37509701
http://dx.doi.org/10.3390/biomedicines11072062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377208/
https://www.ncbi.nlm.nih.gov/pubmed/37509701
http://dx.doi.org/10.3390/biomedicines11072062

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