Associated Papers
Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.
Bukowska A et al.
Swiss Medical Weekly, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
41100774 (PubMed )
Supplement: po-9-e2400951-s001.pdf
Clinical Utility of Whole-Genome Sequencing to Aid Histologic Diagnosis and to Direct Personalized Medicine in Salivary Gland Cancer.
Church M et al.
Jco Precision Oncology, 2025
Genetics, genomics and clinical features of adenomatous polyposis.
Joo JE et al.
Familial Cancer, 2025
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
39283238 (PubMed )
Supplement: bcd-23-0208_supplementary_table_2_suppst2.xlsx › Supplementary_Table_2
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list
Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma.
Gomez F et al.
Cancer Research Communications, 2023
37910143 (PubMed )
Supplement: crc-23-0140-s19.xlsx › Supplemental_Table13_Germline
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.
Mahmood K et al.
Gastroenterology, 2023
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
Beck SH et al.
Familial Cancer, 2022
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
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
NTHL1-associate polyposis: first Australian case report.
Groves A et al.
Familial Cancer, 2019
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE et al.
Cancer Cell, 2019
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Bertelsen B et al.
Npj Genomic Medicine, 2019
31263571 (PubMed )
Supplement: 41525_2019_87_MOESM1_ESM.pdf
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
27329137 (PubMed )
Supplement: ncomms11883-s1.pdf
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