Associated Papers
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Guan Y et al.
Scientific Reports, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.
Perletti G et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.
Laitman Y et al.
Breast Cancer Research and Treatment, 2024
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Universal testing in endometrial cancer in Sweden.
Andersson E et al.
Hereditary Cancer in Clinical Practice, 2024
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.
Matis T et al.
Bjc Reports, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Hereditary Colorectal Cancer Diagnosis by Next-Generation Sequencing.
Wen T et al.
Current Protocols, 2023
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family.
Yang C et al.
Molecular Genetics & Genomic Medicine, 2023
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 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
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
Liu YL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Terraf P et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2022
Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.
Schwartz CJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M et al.
Frontiers in Genetics, 2022
Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
Bernstein-Molho R et al.
Cancer, 2021
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
Laish I et al.
Breast Cancer Research and Treatment, 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
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H et al.
Journal of Medical Genetics, 2020
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.
Shapira Rootman M et al.
Clinical Genetics, 2020
Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature.
Zhang L et al.
European Journal of Cancer (oxford, England : 1990), 2020
Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
Nikitin AG et al.
Frontiers in Oncology, 2020
The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
Bernstein-Molho R et al.
Cancer Causes & Control : Ccc, 2019
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Cox DM et al.
Molecular Genetics & Genomic Medicine, 2018
Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer.
Lee J et al.
Gynecologic Oncology, 2018
Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
Shiran SI et al.
Ajnr. American Journal of Neuroradiology, 2018
Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Zlotogora J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
Boland PM et al.
Ca: a Cancer Journal for Clinicians, 2018
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT et al.
Bmc Medical Genomics, 2017
Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.
Xie C et al.
Molecular and Clinical Oncology, 2016