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Benign Tumors Associated With Heterozygous NTHL1 Variant

Anderson, Danyon J. and Boyle, Andrew and Reinicke, Trenton and Woods, Bison and Hsieh, Patrick (2021) Benign Tumors Associated With Heterozygous NTHL1 Variant. Cureus, 13 (7). Art. No. e16220. ISSN 2168-8184. PMCID PMC8341199. doi:10.7759/cureus.16220. https://resolver.caltech.edu/CaltechAUTHORS:20210921-145834450

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Abstract

NTHL1 is a tumor suppressor gene involved in base excision repair. It is associated with an increased risk for colorectal and breast cancer when two variant gene copies are inherited. However, inheriting one variant NTHL1 copy is not associated with increased tumor risk. Genetic counselors report heterozygous NTHL1 mutations as benign. We present the case of a 22-year-old patient with a heterozygous NTHL1 variant who developed an arm schwannoma, spinal schwannoma, and hepatic hemangioma. The patient also reported feeling multiple other bumps on his body but did not seek medical care due to a lack of symptoms. This case suggests that heterozygous NTHL1 variants may be implicated in tumor development.


Item Type:Article
Related URLs:
URLURL TypeDescription
https://doi.org/10.7759/cureus.16220DOIArticle
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8341199PubMed CentralArticle
Additional Information:© Copyright 2021 Anderson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Peer review began: June 07, 2021; Peer review concluded: June 30, 2021; Published: July 06, 2021. Ethics Statement and Conflict of Interest Disclosures: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.
Subject Keywords:nthl1, nthl1 tumor syndrome, peripheral schwannoma, schwannoma, hemangioma, genetic testing, tumor suppressor
Issue or Number:7
PubMed Central ID:PMC8341199
DOI:10.7759/cureus.16220
Record Number:CaltechAUTHORS:20210921-145834450
Persistent URL:https://resolver.caltech.edu/CaltechAUTHORS:20210921-145834450
Official Citation:Anderson D J, Boyle A, Reinicke T, et al. (July 06, 2021) Benign Tumors Associated With Heterozygous NTHL1 Variant. Cureus 13(7): e16220. doi:10.7759/cureus.16220
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:110971
Collection:CaltechAUTHORS
Deposited By: Tony Diaz
Deposited On:21 Sep 2021 15:49
Last Modified:21 Sep 2021 15:49

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