Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.G587Splc
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MSH2

NM_000251.3:p.G587Splc

Associated Papers

Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.

Cardona DS et al.

Cancer Epidemiology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

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

Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency.

Pearlman R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Alternative splicing and disease.

Tazi J et al.

Biochimica Et Biophysica Acta, 2009

Nuclear/cytoplasmic localization of the multiple endocrine neoplasia type 1 gene product, menin.

Huang SC et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 1999

Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors.

Shan L et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 1998

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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."