Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort

Abstract Colo-Rectal Cancer is a common cancer worldwide with 5–10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Cauca...

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Autores principales: Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/c149a8439c044cba82bf15ee98f3a48b
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