Associated Papers
The Application of the NGS and MLPA Methods in the Molecular Diagnostics of Lynch Syndrome.
Rako I et al.
Diagnostics (basel, Switzerland), 2025
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
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Horti-Oravecz K et al.
Npj Genomic Medicine, 2025
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.
O'Connor CA et al.
Jama Oncology, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.
Bernstein-Molho R et al.
Cancer, 2024
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Weijers DD et al.
International Journal of Cancer, 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
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.
Chen X et al.
Jama Oncology, 2023
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.
Hegazy S et al.
The American Journal of Surgical Pathology, 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
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 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
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 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
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
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.
Hiemenz MC et al.
Cancer Genetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S et al.
Journal of Medical Genetics, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
Bernstein-Molho R et al.
Breast Cancer Research and Treatment, 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
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
Bernstein-Molho R et al.
Breast Cancer Research and Treatment, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
Bernstein-Molho R et al.
Cancer Causes & Control : Ccc, 2019