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
KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
Medeiros ABD et al.
International Journal of Cancer, 2026
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 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
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.
Bondavalli D et al.
Tumori, 2025
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.
Chatziioannou E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.
Orsmond A et al.
Journal of Neuro-oncology, 2025
Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing.
Caliendo G et al.
Cancer Medicine, 2025
Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.
Jacobson AL et al.
Journal of Medical Genetics, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
American Journal of Human Genetics, 2025
Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.
Grech L et al.
Molecular Genetics & Genomic Medicine, 2025
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Genetic predisposition to polyposis syndromes.
García-Simón N et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025
Unusual Profile of Germline Genetic Variants in Unselected Colorectal Cancer Patients from a High-Prevalence Region in Panama.
Landires I et al.
Genes, 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
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems.
García-Simón N et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025
Secondary Findings from Exome Sequencing of a Greek Cohort.
Kostoulas C et al.
Current Issues in Molecular Biology, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 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
Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.
Kokemüller L et al.
International Journal of Cancer, 2025
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.
Translational Oncology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc 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
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
Aguilar D et al.
Jco Global Oncology, 2025
Association of Germline Pathogenic Variants in MUTYH and Other DNA Damage Response Genes With Lung Cancer Risk Among Non-Hispanic Whites and African Americans.
Trendowski MR et al.
Jco Precision Oncology, 2025
Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?
Rojas LXR et al.
Ecancermedicalscience, 2025
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
Abdelmaksoud-Dammak R et al.
Plos One, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025