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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

Translational Oncology(2025)10.1016/j.tranon.2024.102266Source: DataRank Database

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications is a research paper published in Translational Oncology (2025). On theSindex it has a DataRank of 0. It has been cited 6 times.

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Scored on demand from live citation data

Open Access6 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (1 grants)Impact (FWCI 4.50)OA: goldTopics (22)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (30)

Jihoon E. Joo ORCID,Khalid Mahmood ORCID,Mark Clendenning ORCID,Julia Como,Susan Preston

Live enrichment

PubMed:39793275 PMC:PMC11774829 OpenAlex:https://openalex.org/W4406199885

NCI NIH HHS

Grant: U01 CA167551

FWCI

4.50

Citation Percentile

0.9%

Citation Trend

2025

2026

goldLicense: cc-by

journalhttps://doi.org/10.1016/j.tranon.2024.102266

publisherhttps://doi.org/10.1016/j.tranon.2024.102266

publisherhttps://api.elsevier.com/content/article/PII:S1936523324003929?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1936523324003929?httpAccept=text/plain

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39793275

Fields of Study

Genetic factors in colorectal cancerColorectal Cancer Treatments and StudiesColorectal Cancer Screening and Detection

Keywords

MUTYHGeneColorectal cancerGeneticsDNA mismatch repairBiologyCancer researchBase excision repairMedicineMutationCancerDNA repairGermline mutationAdenomaMutational SignatureNthl1Variant Of Uncertain Clinical SignificanceSbs30Sbs36

Sustainable Development Goals

SDG 0: Good health and well-being

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

FAIR Checklist

Authors (30)

Funding (1 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)