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Variant Characterization of a Representative Large Pedigree Suggests “Variant Risk Clusters” Convey Varying Predisposition of Risk to Lynch Syndrome

SIMPLE SUMMARY: Approximately 20% of colorectal cancer (CRC) cases are diagnosed in individuals under 40, with a severe prognosis due to germline variant accumulation. Many of these variants have been classified as hereditary cancer causative, while others remain poorly researched. The identificatio...

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Detalles Bibliográficos
Autores principales: Barbirou, Mouadh, Miller, Amanda A., Mezlini, Amel, Bouhaouala-Zahar, Balkiss, Tonellato, Peter J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452890/
https://www.ncbi.nlm.nih.gov/pubmed/37627102
http://dx.doi.org/10.3390/cancers15164074