Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S268*
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MSH2

NM_000251.3:p.S268*

Associated Papers

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer.

Bowen MB et al.

Jci Insight, 2025

39964762 (PubMed )
Supplement: jciinsight-10-185946-s270.xlsx › MSH2KOm00all_Paired_ANNOVARSNVs

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

Inherited Mutations in Chinese Men With Prostate Cancer.

Zhu Y et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2021

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.

Bhai P et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2020

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

Smith J et al.

Annals of Diagnostic Pathology, 2012

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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."