Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?
William D et al.
Esmo Gastrointestinal Oncology, 2025
Comprehensive genetic and epigenetic characterization of Lynch-like syndrome patients.
Pirini F et al.
International Journal of Cancer, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Whole-Exome Sequencing Analysis of Inflammatory Bowel Disease-Associated Serrated Dysplasia.
Balajthy Z et al.
International Journal of Molecular Sciences, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
Biorxiv : the Preprint Server for Biology, 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
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.
Zheng Y et al.
International Journal of Cancer, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans.
Park JE et al.
Annals of Laboratory Medicine, 2025
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Shumilova S et al.
International Journal of Molecular Sciences, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Di Rado S et al.
Cancers, 2023
DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS.
Lagniton PNP et al.
Computer Methods and Programs in Biomedicine, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.
Xiao F et al.
Biomolecules, 2023
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
Anaclerio F et al.
Frontiers in Genetics, 2023
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen V et al.
Oncology Letters, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A et al.
Molecular Genetics & Genomic Medicine, 2021
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Georgeson P et al.
Gut, 2021
Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®.
Kalfakakou D et al.
Genomics, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Te Paske IBAW et al.
International Journal of Molecular Sciences, 2020
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Yanus GA et al.
Clinical Genetics, 2018
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
Rizzolo P et al.
Frontiers in Oncology, 2018