Associated Papers
Concordance Analysis of Microsatellite Instability via NGS and Mismatch Repair Deficiency via IHC in Endometrial and Colorectal Cancer.
Nero C et al.
Targeted Oncology, 2026
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Guan Y et al.
Scientific Reports, 2025
41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM2_ESM.xlsx › Sheet1
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.
Dos Santos Luciano MC et al.
Clinical Genetics, 2025
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
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
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
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
Bennett S et al.
European Journal of Human Genetics : Ejhg, 2021
33654310 (PubMed )
Supplement: 41431_2021_817_MOESM1_ESM.pdf
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
LaDuca H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1
Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.
Batte BA et al.
Gynecologic Oncology, 2014
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