Six case reports of <scp> <i>NTHL1</i> </scp> ‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome-Reference-Cited by-同舟云学术

Six case reports of NTHL1 ‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome

Published:2022-10-17 Issue:2 Volume:103 Page:231-235
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Weatherill Chelsey B.¹^ORCID,Burke Sarah A.²,Haskins Carolyn G.²,Berry Darcy K.²^ORCID,Homer Jeanne P.¹,Demeure Michael J.¹³^ORCID,Darabi Sourat¹^ORCID

Affiliation:

1. Hoag Family Cancer Institute Newport Beach California USA

2. Department of Individualized Cancer Management, H. Lee Moffitt Cancer Center and Research Institute Tampa Florida USA

3. Translational Genomics Research Institute Phoenix Arizona USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14242

Reference19 articles.

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

2. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

3. Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis

4. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review

5. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

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3. NTHL1 is a recessive cancer susceptibility gene;Scientific Reports;2023-11-30

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5. Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome;Frontiers in Genetics;2023-08-31