Associated Papers
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants
Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.
Ollodart AR et al.
Genetics, 2021
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
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
Pemov A et al.
Jco Precision Oncology, 2021
NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.
Zanti M et al.
Cancers, 2020
33120919 (PubMed )
Supplement: cancers-12-03140-s001.pdf
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Germani A et al.
Journal of Clinical Medicine, 2020
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
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
The mutational spectrum of Lynch syndrome in cyprus.
Loizidou MA et al.
Plos One, 2014
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
Martinez SL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
Gammie AE et al.
Genetics, 2007
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