Associated Papers
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M et al.
Journal of Medical Genetics, 2020
31494577 (PubMed )
Supplement: jmedgenet-2019-106272supp001.xlsx › Suppl_Table_S1
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
Morak M et al.
Familial Cancer, 2020
The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material.
Jansen AML et al.
European Journal of Human Genetics : Ejhg, 2020
Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.
Unknown Author
Familial Cancer, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N et al.
Journal of Medical Genetics, 2015
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