Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R711P
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MSH2

NM_000251.3:p.R711P

Associated Papers

Secondary findings in 443 exome sequencing data.

Branković M et al.

Annals of Human Genetics, 2025

Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy-Responsive Locally Advanced Rectal Adenocarcinoma.

Evaristo G et al.

Cancer Reports (hoboken, N.j.), 2024

Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer.

Flynn A et al.

Molecular Systems Biology, 2024

39026103 (PubMed )
Supplement: 44320_2024_54_MOESM1_ESM.xlsx › TableS1

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2

Targeting DNA polymerase β elicits synthetic lethality with mismatch repair deficiency in acute lymphoblastic leukemia.

Teng JY et al.

Leukemia, 2023

Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse.

Yang F et al.

Nature Cancer, 2021

Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Hampel H et al.

Gynecologic Oncology, 2021

Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.

Li B et al.

Blood, 2020

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Thodi G et al.

Bmc Cancer, 2010

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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."