Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S554Splc
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MSH2

NM_000251.3:p.S554Splc

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

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

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MSH2

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

Cuatrecasas M et al.

Cancers, 2020

33003511 (PubMed )
Supplement: cancers-12-02803-s001.pdf

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Liu J et al.

Journal of Cancer, 2019

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

[Founder mutation in Lynch syndrome].

Cajal AR et al.

Medicina, 2016

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Dominguez-Valentin M et al.

Frontiers in Oncology, 2016

Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population.

Tao H et al.

Cancer Science, 2008

A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

Tao H et al.

Carcinogenesis, 2004

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