Associated Papers
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Mejia Maza A et al.
American Journal of Human Genetics, 2026
41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
39334433 (PubMed )
Supplement: 13053_2024_292_MOESM1_ESM.pdf
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST10-MMR
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 › PMS2
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.
Urbina-Jara LK et al.
Genes, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM3_ESM.xlsx › Supp_Table_2
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
Penkert J et al.
Breast Cancer Research : Bcr, 2018
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
Cock-Rada AM et al.
Familial Cancer, 2018
Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.
Tezcan G et al.
World Journal of Gastrointestinal Oncology, 2016
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients.
Zahary MN et al.
International Journal of Colorectal Disease, 2014
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