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Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.

作者信息

Elsayed Fadwa A, Grolleman Judith E, Ragunathan Abiram, Buchanan Daniel D, van Wezel Tom, de Voer Richarda M

机构信息

Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

出版信息

Gastroenterology. 2020 Dec;159(6):2241-2243.e6. doi: 10.1053/j.gastro.2020.08.042. Epub 2020 Aug 26.

DOI:10.1053/j.gastro.2020.08.042
PMID:32860789
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7899696/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0fe/7899696/ba6761436b96/nihms-1658701-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0fe/7899696/ba6761436b96/nihms-1658701-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0fe/7899696/ba6761436b96/nihms-1658701-f0001.jpg

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Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.

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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.

World J Gastroenterol. 2025-8-7

[2]
Genetics, genomics and clinical features of adenomatous polyposis.

Fam Cancer. 2025-4-16

[3]
NTHL1 is a recessive cancer susceptibility gene.

Sci Rep. 2023-11-30

[4]
Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?

Int J Mol Sci. 2023-9-26

[5]
Combined germline and tumor mutation signature testing identifies new families with tumor syndrome.

Front Genet. 2023-8-31

[6]
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.

Gastroenterology. 2023-10

[7]
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?

Int J Mol Sci. 2023-1-21

[8]
Second Case of Tumors Associated With Heterozygous NTHL1 Variant.

Cureus. 2022-7-11

[9]
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.

Hum Genet. 2022-12

[10]
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.

Fam Cancer. 2022-10

本文引用的文献

[1]
The mutational constraint spectrum quantified from variation in 141,456 humans.

Nature. 2020-5-27

[2]
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Cancer Cell. 2019-2-11

[3]
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

Sci Rep. 2015-9-11

[4]
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.

Nat Genet. 2015-5-4

[5]
Base excision repair.

Cold Spring Harb Perspect Biol. 2013-4-1

[6]
The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data.

Cancer Discov. 2012-5

[7]
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

Int J Cancer. 2011-4-8

[8]
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Nat Genet. 2002-2

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