Associated Papers
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence.
Shia J et al.
Familial Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.
Poaty H et al.
Global 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
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
Ryan NAJ et al.
Plos Medicine, 2020
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
Ramchander NC et al.
Bmc Medical Genetics, 2017
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