Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R497delFs
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MLH1

NM_000249.4:p.R497delFs

Associated Papers

Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma.

Feng X et al.

International Journal of Cancer, 2024

39109916 (PubMed )
Supplement: supplement_1.pdf

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 › MLH1

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic Algorithm.

Toll A et al.

Actas Dermo-sifiliograficas, 2022

Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic Algorithm.

Toll A et al.

Actas Dermo-sifiliograficas, 2022

A Comparative Study of Patient-Derived Tumor Models of Pancreatic Ductal Adenocarcinoma Involving Orthotopic Implantation.

Yanagihara K et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2022

Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.

Reitsam NG et al.

Frontiers in Oncology, 2022

Determinants of Response and Intrinsic Resistance to PD-1 Blockade in Microsatellite Instability-High Gastric Cancer.

Kwon M et al.

Cancer Discovery, 2021

33846173 (PubMed )
Supplement: 21598290cd210219-sup-260791_2_supp_7030638_qqzrs3.xlsx › MMR-related

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Golubicki M et al.

Cancers, 2021

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S1_

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2019

Discordant Mismatch Repair Protein Immunoreactivity in Lynch Syndrome-Associated Neoplasms:  A Recommendation for Screening Synchronous/Metachronous Neoplasms.

Roth RM et al.

American Journal of Clinical Pathology, 2016

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Chubb D et al.

Nature Communications, 2016

27329137 (PubMed )
Supplement: ncomms11883-s1.pdf

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM et al.

Human Mutation, 2014

Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

Moline J et al.

Gynecologic Oncology, 2013

The frequency of Muir-Torre syndrome among Lynch syndrome families.

South CD et al.

Journal of the National Cancer Institute, 2008

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Hampel H et al.

The New England Journal of Medicine, 2005

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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."