Associated Papers
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
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
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
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
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
Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.
Yang Y et al.
Journal of Kidney Cancer and Vhl, 2021
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H et al.
Journal of Medical Genetics, 2020
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
Bakry D et al.
European Journal of Cancer (oxford, England : 1990), 2014