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

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 Caucasian popu...

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Detalles Bibliográficos
Autores principales: Khan, Nikhat, Lipsa, Anuja, Arunachal, Gautham, Ramadwar, Mukta, Sarin, Rajiv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440391/
https://www.ncbi.nlm.nih.gov/pubmed/28533537
http://dx.doi.org/10.1038/s41598-017-02319-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440391/
https://www.ncbi.nlm.nih.gov/pubmed/28533537
http://dx.doi.org/10.1038/s41598-017-02319-6

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