Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.F1088insFs
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MSH6

NM_000179.3:p.F1088insFs

Associated Papers

Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

Klarskov L et al.

The American Journal of Surgical Pathology, 2011

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

You JF et al.

British Journal of Cancer, 2010

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

Niessen RC et al.

Gut, 2006

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.

Domingo E et al.

Oncogene, 2005

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ et al.

American Journal of Human Genetics, 2002

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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."