Associated Papers
Pathogenic Insights into DNA Mismatch Repair (MMR) Genes-Proteins and Microsatellite Instability: Focus on Adrenocortical Carcinoma and Beyond.
Carsote M et al.
Diagnostics (basel, Switzerland), 2023
Lymph-node metastasis from gastric adenocarcinoma in a patient bearing a germ line missense variant MSH2 c.1808A > T (Asp603Val) responds to the immune checkpoint inhibitor pembrolizumab.
Kiyomiya M et al.
Japanese Journal of Clinical Oncology, 2023
The genetic alterations of rectal neuroendocrine tumor and indications for therapy and prognosis: a systematic review.
Li K et al.
Endocrine Journal, 2023
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MSH6
A novel Lynch syndrome pedigree bearing germ-line MSH2 missense mutation c.1808A>T (Asp603Val).
Sekine R et al.
Japanese Journal of Clinical Oncology, 2022
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Rath A et al.
Human Mutation, 2019
Comprehensive analysis of cancers of unknown primary for the biomarkers of response to immune checkpoint blockade therapy.
Gatalica Z et al.
European Journal of Cancer (oxford, England : 1990), 2018
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