Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.K229_A230del2
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MSH2

NM_000251.3:p.K229_A230del2

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.

Oh E et al.

Clinical Genitourinary Cancer, 2025

Clinical and Genetic Characteristics of Pediatric Colorectal Cancer.

Shen Q et al.

Pediatric Blood & Cancer, 2025

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

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.

Bu R et al.

International Journal of Molecular Sciences, 2022

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

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Shin HC et al.

Cancer Research and Treatment, 2020

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

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H et al.

Jama Oncology, 2018

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.

Buecher B et al.

Familial Cancer, 2018

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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."