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
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
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.
Alzogaray V
Clinical Genetics, 2026
Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.
Aldera AP et al.
Journal of Clinical Pathology, 2025
Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.
Sarmadi A et al.
Bmc Medical Genomics, 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
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.
Dos Santos Luciano MC et al.
Clinical Genetics, 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.
Hemker SL et al.
American Journal of Human Genetics, 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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 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
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
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 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
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
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
Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.
Mathó C et al.
Frontiers in Oncology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in 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
Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.
Ozdemir O et al.
Cancers, 2024
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Demir O et al.
American Journal of Medical Genetics. Part A, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
Young CL et al.
Genetics, 2024
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
Young CL et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022.
Wyatt Castillo RB et al.
Jco Precision Oncology, 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
Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Thet M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
Lintas C et al.
Genes, 2024