Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R396K
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MSH2

NM_000251.3:p.R396K

Associated Papers

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil.

Oliveira P et al.

Global Medical Genetics, 2023

Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

Hutchcraft ML et al.

Journal of Personalized Medicine, 2022

Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals.

Ukaegbu C et al.

Familial Cancer, 2021

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls.

Akcay IM et al.

International Journal of Cancer, 2021

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals.

Fabišíková K et al.

Frontiers in Genetics, 2020

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM5_ESM.pdf

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

Takao M et al.

International Journal of Clinical Oncology, 2018

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

Tezcan G et al.

World Journal of Gastrointestinal Oncology, 2016

An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report.

Cohen SA et al.

Frontiers in Genetics, 2016

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Win AK et al.

Familial Cancer, 2015

Clinical guideline seom: hereditary colorectal cancer.

Guillén-Ponce C et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2015

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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."