Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.K545_E546delFs
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MSH6

NM_000179.3:p.K545_E546delFs

Associated Papers

Neuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.

Bernal Zárate MP et al.

Frontiers in Endocrinology, 2025

Characteristics of Cancer in Subjects Carrying Lynch Syndrome-Associated Gene Variants in Taiwanese Population: A Hospital-Based Study in Taiwan.

Chen YP et al.

Cancers, 2024

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

The genetic alterations of rectal neuroendocrine tumor and indications for therapy and prognosis: a systematic review.

Li K et al.

Endocrine Journal, 2023

Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.

Kidambi TD et al.

Familial Cancer, 2017

MSH6 mutation in a family affected by Muir-Torre syndrome.

Kacerovska D et al.

The American Journal of Dermatopathology, 2012

[Muir-Torre syndrome--a phenotypic variant of Lynch syndrome].

Kacerovská D et al.

Ceskoslovenska Patologie, 2010

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.

Arnold A et al.

Familial Cancer, 2007

Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome - a Pilot Study Using New Stratification Criteria.

Kašubová I et al.

Acta Medica (hradec Kralove), 0

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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."