Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R382H
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MSH2

NM_000251.3:p.R382H

Associated Papers

Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.

Francis RA et al.

Cancer Research Communications, 2024

Effects of temozolomide on tumor mutation burden and microsatellite instability in melanoma cells.

Sawada M et al.

The Journal of Dermatology, 2024

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

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Buccoliero AM et al.

Genes, 2022

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

Synchronous and Metastatic Papillary and Follicular Thyroid Carcinomas with Unique Molecular Signatures.

Cracolici V et al.

Endocrine Pathology, 2018

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Zhu M et al.

Oncology Letters, 2013

Detection of genetic alterations in hereditary colorectal cancer screening.

Pineda M et al.

Mutation Research, 2010

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO et al.

Gut, 2010

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY et al.

Bmc Cancer, 2008

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

Küry S et al.

Genetic Testing, 2007

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

Olschwang S et al.

Genetic Testing, 2007

Genetic testing for colon cancer.

Kaz AM et al.

Nature Clinical Practice. Gastroenterology & Hepatology, 2006

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Jones S et al.

Human Molecular Genetics, 2002

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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."