Associated Papers
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R et al.
Npj Precision Oncology, 2024
38789506 (PubMed )
Supplement: 41698_2024_603_MOESM1_ESM.pdf
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
Schwenk V et al.
Journal of Medical Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
Arnold AM et al.
European Journal of Human Genetics : Ejhg, 2020
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2019
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
Bush L et al.
Familial Cancer, 2019
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1
Genetic features of Lynch syndrome in the Israeli population.
Goldberg Y et al.
Clinical Genetics, 2015
Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.
Moline J et al.
Gynecologic Oncology, 2013
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
Jasperson KW et al.
Clinical Genetics, 2011
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