Associated Papers
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM3_ESM.xlsx › Supp_Table_GL_MIS_vs_SOM
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.
Li Y et al.
Cancer Biology & Medicine, 2022
35638907 (PubMed )
Supplement: cbm-19-1235-s001.pdf
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W et al.
Molecular Genetics & Genomic Medicine, 2016
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
Jansen AM et al.
Plos One, 2016
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