Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M592V
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MSH2

NM_000251.3:p.M592V

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM4_ESM.xlsx › Sayfa1

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

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

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

Wu B et al.

International Journal of Molecular Sciences, 2019

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

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Drost M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

DNA Mismatch Repair System Imbalances in Breast Adenocarcinoma.

Metaxas GI et al.

Cancer Diagnosis & Prognosis, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."