Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.P362delFs
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MSH6

NM_000179.3:p.P362delFs

Associated Papers

Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.

Ali-Fehmi R et al.

Jco Precision Oncology, 2024

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-escaping_mutations

Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Liu J et al.

Frontiers in Oncology, 2022

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

de Angelis de Carvalho N et al.

Cancers, 2020

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

Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.

Nilbert M et al.

Familial Cancer, 2009

Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients.

de Leeuw WJ et al.

Oncogene, 2001

Familial endometrial cancer in female carriers of MSH6 germline mutations.

Wijnen J et al.

Nature Genetics, 1999

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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."