NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas-Reference-Cited by-同舟云学术

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

Published:2019-06-21 Issue:1 Volume:9 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Belhadj Sami^ORCID,Quintana Isabel,Mur Pilar,Munoz-Torres Pau M.,Alonso M. Henar^ORCID,Navarro Matilde,Terradas Mariona^ORCID,Piñol Virginia,Brunet Joan^ORCID,Moreno Victor^ORCID,Lázaro Conxi,Capellá Gabriel,Valle Laura^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-019-45281-1.pdf

Reference18 articles.

1. Weren, R. D. et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47, 668–671 (2015).

2. Rivera, B., Castellsague, E., Bah, I., van Kempen, L. C. & Foulkes, W. D. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. N Engl J Med 373, 1985–1986 (2015).

3. Broderick, P. et al. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. Gastroenterology 152, 75–77 e4 (2017).

4. Chubb, D. et al. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Nature communications 7, 11883 (2016).

5. Belhadj, S. et al. Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis. Clin Gastroenterol Hepatol 15, 461–462 (2017).

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