Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.D1171_R1172delFs
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MSH6

NM_000179.3:p.D1171_R1172delFs

Associated Papers

Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.

Hallquist MLG et al.

Jnci Cancer Spectrum, 2025

40498571 (PubMed )
Supplement: pkaf061_supplementary_data.xlsx › STable1_Individual_Case_Details

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.

Horti-Oravecz K et al.

Npj Genomic Medicine, 2025

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

Plaschke J et al.

Human Mutation, 2004

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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."