Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q298*
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MSH2

NM_000251.3:p.Q298*

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_MOESM5_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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.

Bugoye FC et al.

Frontiers in Genetics, 2023

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

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Frostberg E et al.

Cancers, 2021

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.

Yang Y et al.

Journal of Kidney Cancer and Vhl, 2021

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

Brandão A et al.

International Journal of Molecular Sciences, 2020

32708810 (PubMed )
Supplement: ijms-21-05036-s001.pdf

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.

Nguyen-Dumont T et al.

Familial Cancer, 2020

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.

Georgeson P et al.

Molecular Genetics & Genomic Medicine, 2019

MSH2 Loss in Primary Prostate Cancer.

Guedes LB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression.

Therkildsen C et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2016

27168032 (PubMed )
Supplement: supplement_1.xlsx › Ark1

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

Dominguez-Valentin M et al.

Bmc Urology, 2016

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

Whitworth J et al.

Jama Oncology, 2016

The gynecological surveillance of women with Lynch syndrome in Sweden.

Tzortzatos G et al.

Gynecologic Oncology, 2015

High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

Rosty C et al.

Familial Cancer, 2014

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.

Walsh MD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A et al.

American Journal of Human Genetics, 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."