Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Y656*
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MSH2

NM_000251.3:p.Y656*

Associated Papers

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

The repertoire of germline variants in patients with early-onset rectal cancer.

Beltrami CM et al.

Cancer Communications (london, England), 2022

35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3

DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

Ricker CN et al.

Cancer, 2017

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

The mutational spectrum of Lynch syndrome in cyprus.

Loizidou MA et al.

Plos One, 2014

Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

Dymerska D et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Some aspects of molecular diagnostics in Lynch syndrome.

Kurzawski G

Hereditary Cancer in Clinical Practice, 2006

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G et al.

Clinical Genetics, 2006

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

Taylor CF et al.

Human Mutation, 2003

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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."