Associated Papers
The molecular profile of ovarian struma ovarii.
Calejero I et al.
Human Pathology, 2026
Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.
Eid M et al.
Mutagenesis, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.
Ul Haq S et al.
Jto Clinical and Research Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Chrysafi P et al.
Cancers, 2023
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Mur P et al.
Genome Medicine, 2023
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Vibert R et al.
European Journal of Human Genetics : Ejhg, 2023
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Palles C et al.
Familial Cancer, 2022
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Elsayed FA et al.
Molecular Genetics & Genomic Medicine, 2019
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Buchanan DD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring a POLE Mutation.
Gong J et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2017
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.
Nicolas E et al.
Gene, 2016
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.
Jansen AM et al.
European Journal of Human Genetics : Ejhg, 2016
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD et al.
Nature Genetics, 2015
DNA replication fidelity and cancer.
Preston BD et al.
Seminars in Cancer Biology, 2010