A Scoring Model and Protocol to Adapt Universal Screening for Lynch Syndrome to Identify Germline Pathogenic Variants by Next Generation Sequencing from Colorectal Cancer Patients and Cascade Screening

SIMPLE SUMMARY: Lynch syndrome (LS) is an autosomal-dominantly inherited form of cancer predisposition dominated by colorectal cancer (CRC). LS is caused by germline pathogenic variants (PV) occurring in known mismatch repair genes. For effective cascade screening, it is critical to identify PV for...

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Detalles Bibliográficos
Autores principales: Chambuso, Ramadhani, Robertson, Barbara, Ramesar, Raj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Viewpoint
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220991/
https://www.ncbi.nlm.nih.gov/pubmed/35740566
http://dx.doi.org/10.3390/cancers14122901

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220991/
https://www.ncbi.nlm.nih.gov/pubmed/35740566
http://dx.doi.org/10.3390/cancers14122901

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