ReviewHereditary cancer in clinical practice2025
Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review.
Review in Hereditary cancer in clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.Familial cancer · 2026Article
- Benign Neoplasms in Biallelic Nth-Like DNA Glycosylase 1-Associated Tumor Syndrome: Expanding the Clinical Phenotype.ACG case reports journal · 2026Article
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5 authors.
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Abstract
BACKGROUND AND
aimTo systematically describe the genotypes and phenotypes of NTHL1-associated tumour syndrome (NATS) cases reported in the literature.
methodsA systematic review of literature across Medline, Embase and Web of Science was carried out by two independent reviewers. Studies reporting individuals with germline biallelic NTHL1 likely pathogenic/pathogenic variants (PVs) were identified and collected for statistical analysis.
resultsIn total, 24 studies reported 77 individuals with germline biallelic NTHL1 PVs (51.9% female) from 54 families with 81.8% (63/77) of cases developing at least one cancer [median age at first cancer diagnosis 47 years; range 19–68 years]. The c.244 C > T, p.(Gln82*) PV occurred in 50/54 (92.6%) probands with 31 of these being homozygous and 19 having this PV in compound heterozygosity with another PV. Colorectal cancer occurred in 39/77; (50.6%), with the median age at diagnosis 50 years; range 31–73 years followed by breast cancer 25/77; (32.5%), with median age at diagnosis 47 years; range 36–68 years. Other phenotypes were central nervous system neoplasia, skin, gynecological, urothelial and hematological cancers. Colonic polyposis (≥ 10 polyps of any histology) was observed in 39/70 (55.7%) cases reported to have colonoscopy. In probands, colorectal cancer was the most common indication for genetic testing (38/54; 70.4%) followed by colorectal and breast cancer (8/54; 14.8%). The presence of COSMIC mutational signature SBS30 in a cancer genome may indicate the presence of biallelic NTHL1 deficiency.
conclusionThe prevalence of colorectal-, breast, endometrial cancers and meningiomas in this series highlights the importance of surveillance. Findings of this systematic review should inform guidelines for screening and diagnosis. COSMIC mutational signature 30 may assist in defining the tumour spectrum and assessing the pathogenicity of variants of unknown significance. Prospective studies on cancer development in NATS cases, with broader ascertainment, are recommended to further characterize of the cancer spectrum and penetrance.
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