Associated Papers
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
Vazzano Goldstone J et al.
Diagnostic Pathology, 2026
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
Mismatch repair gene germline mutations in patients with prostate cancer.
Fang B et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
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
Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
Rosenblum RE et al.
Jco Precision Oncology, 2020
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G et al.
Clinical Genetics, 2015