Associated Papers
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
Nagy P et al.
International Journal of Molecular Sciences, 2024
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study.
Yeh JT et al.
Cancers, 2024
Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports.
Cohen PR et al.
Dermatology Online Journal, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.
Hutchcraft ML et al.
Jco Precision Oncology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA et al.
Frontiers in Oncology, 2023
Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.
Bu R et al.
International Journal of Molecular Sciences, 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
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients.
Yalcintepe S et al.
Tumori, 2020
Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.
Cuatrecasas M et al.
Cancers, 2020
Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.
Tomonari M et al.
Bmc Nephrology, 2019
Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency.
Pearlman R et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Erratum: Dudley B, Karloski E, Monzon FA, et al. Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. Cancer. 2018;124:1691-1700.
Unknown Author
Cancer, 2018
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
Dudley B et al.
Cancer, 2018
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).
Ishida H et al.
Journal of the Anus, Rectum and Colon, 2018
MSH2 Loss in Primary Prostate Cancer.
Guedes LB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
Goodfellow PJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer.
Siraj AK et al.
Cancer, 2015
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.
Egoavil C et al.
Plos One, 2013
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
Tang R et al.
Clinical Genetics, 2009
Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.
Papp J et al.
World Journal of Gastroenterology, 2007
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
Muir-Torre Syndrome: The Importance of a Detailed Family History.
Burris CKH et al.
Case Reports in Ophthalmology, 0