Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q337*
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MSH2

NM_000251.3:p.Q337*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Continuous_TISF_monitoring

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

Brinch HH et al.

Familial Cancer, 2024

Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.

Ali-Fehmi R et al.

Jco Precision Oncology, 2024

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › TP53

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

Walker R et al.

Cancers, 2023

37894291 (PubMed )
Supplement: cancers-15-04925-s001.zip › cancers-2623778-supplementary.pdf

Genomic alterations of oligodendrogliomas at distant recurrence.

Liu G et al.

Cancer Medicine, 2023

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

Prevalence and Associations of Beta2-Microglobulin Mutations in MSI-H/dMMR Cancers.

Liu F et al.

The Oncologist, 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

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.

Suszynska M et al.

Gynecologic Oncology, 2019

CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.

Mercatanti A et al.

Fems Yeast Research, 2017

Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).

Nallamilli BRR et al.

Current Protocols in Human Genetics, 2017

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Chubb D et al.

Nature Communications, 2016

27329137 (PubMed )
Supplement: ncomms11883-s1.pdf

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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."