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
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
Pierre-Noël E et al.
Familial Cancer, 2022
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
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