Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.I735V
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MSH2

NM_000251.3:p.I735V

Associated Papers

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

Fujitani H et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023

36896836 (PubMed )
Supplement: ejcp-32-286-s002.pdf

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

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-2021-107886supp003.xlsx › MSH2

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Hu L et al.

Npj Breast Cancer, 2022

35449176 (PubMed )
Supplement: 41523_2022_417_MOESM2_ESM.xlsx › Supplementary_data_1

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Kiyozumi Y et al.

Cancer Medicine, 2019

31386297 (PubMed )
Supplement: CAM4-8-5534-s001.xlsx › Suppllemental_file_1_

Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer.

Yoo SK et al.

Nature Communications, 2019

31235699 (PubMed )
Supplement: 41467_2019_10680_MOESM5_ESM.xlsx › Supplementary_Data_2

Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.

Deng J et al.

Frontiers in Genetics, 2019

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Shi E et al.

Journal of Translational Medicine, 2016

27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM3_ESM.xlsx › Table_S7

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA et al.

Human Mutation, 2013

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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."