Varaico: Literature-Extracted Genetic Variants

Gene:NTHL1
Variant:p.E265K
Back to variants list

NTHL1

NM_002528.7:p.E265K

Associated Papers

Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.

Bukowska A et al.

Swiss Medical Weekly, 2025

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S4

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Li N et al.

Npj Breast Cancer, 2021

33980861 (PubMed )
Supplement: 41523_2021_255_MOESM1_ESM.pdf

Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy.

Tian X et al.

Pathology Oncology Research : Por, 2021

34512202 (PubMed )
Supplement: Table1.XLSX › SNV_prediction

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Combined CDK4/6 and PD-1 Inhibition in Refractory SMARCA4-Deficient Small-Cell Carcinoma of the Ovary, Hypercalcemic Type.

Lee EK et al.

Jco Precision Oncology, 2020

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Belhadj S et al.

Scientific Reports, 2019

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."