Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R227fs
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MSH2

NM_000251.3:p.R227fs

Associated Papers

Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.

Yan G et al.

International Journal of Surgery (london, England), 2025

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients.

Chao AS et al.

Journal of Gynecologic Oncology, 2024

The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome.

Guo Y et al.

Frontiers in Genetics, 2024

Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Kryklyva V et al.

The Journal of Pathology. Clinical Research, 2022

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

A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Hansen MF et al.

Molecular Genetics & Genomic Medicine, 2014

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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."