Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.V642_Q645del4
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MSH2

NM_000251.3:p.V642_Q645del4

Associated Papers

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

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

[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."