ArticleFamilial cancer2019
NTHL1-associate polyposis: first Australian case report.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.Familial cancer · 2022Pooled it
- Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review.Hereditary cancer in clinical practice · 2025Review
- Article
- Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?International journal of molecular sciences · 2023Review
- Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.Gastrointestinal endoscopy clinics of North America · 2022Review
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis.Nucleic acids research · 2021Article
- Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.Hereditary cancer in clinical practice · 2021Review
- POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.Oncogene · 2021Review
- Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.NPJ breast cancer · 2021Article
- Review
- NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.Scientific reports · 2019Article
- A new family with a homozygous nonsense variant inHuman genome variation · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, polymerase proofreading associated polyposis and the recently described NTHL1-associated polyposis (NAP). NAP is characterised by recessive inheritance, attenuated adenomatous polyposis, colonic cancer(s) and possible extracolonic malignancies. To date, 11 cases have been reported as having germline homozygous or compound heterozygous mutations in the base excision repair gene NTHL1. Here we present a further case of a 65-year-old male with a history of adenomatous polyposis and bladder cancer, who has a previously described homozygous nonsense variant in the NTHL1 gene. This case is consistent with the emerging phenotype previously described of multiple colorectal adenomas and at least one primary tumour, adding to the small but growing body of literature about NAP.
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