Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q193*
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MSH2

NM_000251.3:p.Q193*

Associated Papers

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

Kassem PH et al.

Bmc Medical Genomics, 2024

39123171 (PubMed )
Supplement: 12920_2024_1965_MOESM1_ESM.pdf

Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

Luo M et al.

Journal of the National Cancer Institute, 2024

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Rofes P et al.

Cancer Medicine, 2024

38558366 (PubMed )
Supplement: CAM4-13-e7041-s004.xlsx › Table_S3_VAF_5_

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

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

Elze L et al.

Journal of the National Cancer Institute, 2023

37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1

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

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

Suszynska M et al.

Journal of Ovarian Research, 2020

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

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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."