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Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

BACKGROUND: Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC) patients. METHODS: Consecutive cases (n = 212) we...

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Detalles Bibliográficos
Autores principales: Rashid, Muhammad Usman, Naeemi, Humaira, Muhammad, Noor, Loya, Asif, Lubiński, Jan, Jakubowska, Anna, Yusuf, Muhammed Aasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806584/
https://www.ncbi.nlm.nih.gov/pubmed/31660093
http://dx.doi.org/10.1186/s13053-019-0128-2