Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R248Q
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MSH6

NM_000179.3:p.R248Q

Associated Papers

Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.

Lee HG et al.

Cancer Research and Treatment, 2026

39973140 (PubMed )
Supplement: crt-2024-947_S6_Table.pdf

p53 in colorectal cancer: from a master player to a privileged therapy target.

Yan S et al.

Journal of Translational Medicine, 2025

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

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 › MSH6

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

Clinical Impact of Detecting Low-Frequency Variants in Cell-Free DNA on Treatment of Castration-Resistant Prostate Cancer.

Mizuno K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34526361 (PubMed )
Supplement: 10780432ccr212328-sup-268178_2_supp_7341418_qy5jxd.pdf

The context-specific role of germline pathogenicity in tumorigenesis.

Srinivasan P et al.

Nature Genetics, 2021

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.

Pandey R et al.

Cancers, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Tumor Genomic Profiling Guides Patients with Metastatic Gastric Cancer to Targeted Treatment: The VIKTORY Umbrella Trial.

Lee J et al.

Cancer Discovery, 2019

Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.

Cuevas D et al.

Virchows Archiv : an International Journal of Pathology, 2019

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Yi D et al.

Human Genomics, 2019

The landscape of genomic alterations across childhood cancers.

Gröbner SN et al.

Nature, 2018

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.

Harismendy O et al.

Genome Biology, 2011

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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."