Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q402fs
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MSH2

NM_000251.3:p.Q402fs

Associated Papers

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

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Paduano F et al.

Genes, 2022

35886069 (PubMed )
Supplement: genes-13-01286-s001.zip › Supplementary_Figures_S2.pdf

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

van der Post RS et al.

Journal of Medical Genetics, 2010

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

Nilbert M et al.

Familial Cancer, 2009

[Recognition of congenital endometrial carcinoma: the importance of family history and investigation of microsatellite instability in the tumour].

Hoogerbrugge N et al.

Nederlands Tijdschrift Voor Geneeskunde, 2007

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

Overbeek LI et al.

British Journal of Cancer, 2007

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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."