Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M1I
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MSH2

NM_000251.3:p.M1I

Associated Papers

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

39945023 (PubMed )
Supplement: 2024_286887_KOROTEV_SUPPL.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 › MLH1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M et al.

Bmc Medical Genetics, 2018

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Effect of COX2 -765G>C and c.3618A>G polymorphisms on the risk and survival of sporadic colorectal cancer.

Iglesias D et al.

Cancer Causes & Control : Ccc, 2009

Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.

Guillem JG et al.

Annals of Surgery, 2007

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

Barnetson RA et al.

The New England Journal of Medicine, 2006

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer.

Couch FJ et al.

The New England Journal of Medicine, 1997

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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."