Associated Papers
Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.
Cammarota F et al.
Biomedicines, 2026
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.
Alzogaray V
Clinical Genetics, 2026
Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.
Bukowska A et al.
Swiss Medical Weekly, 2025
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Grot N et al.
Hereditary Cancer in Clinical Practice, 2025
Low Yield of Genetic Testing in Serrated Polyposis Syndrome.
Upadhye I et al.
Clinical and Translational Gastroenterology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.
Dos Santos W et al.
World Journal of Gastroenterology, 2025
Rare variants modulating phenotype in NF1 carriers.
Pasquinelli E et al.
Scientific Reports, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.
Rodriguez-Salamanca J et al.
Frontiers in Oncology, 2025
Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.
Bahsi T et al.
Frontiers in Pharmacology, 2025
Light and shade of multigene panel testing for hereditary cancer: Examples from the real world.
Innella G et al.
Tumori, 2024
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.
Walker R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.
Terlouw D et al.
Genes, Chromosomes & Cancer, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA et al.
Journal of Medical Genetics, 2023
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.
Fernández-Castillejo S et al.
Journal of Medical Genetics, 2023
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK et al.
Scientific Reports, 2023
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
Hansen EB et al.
Scientific Reports, 2023
NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?
Grot N et al.
International Journal of Molecular Sciences, 2023
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
Alenezi WM et al.
Frontiers in Oncology, 2023
Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome.
Pinto C et al.
Frontiers in Genetics, 2023
POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
Magrin L et al.
Oncogene, 2021