Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q409*
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MLH1

NM_000249.4:p.Q409*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM1_ESM.pdf

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

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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

Lei H et al.

Human Genomics, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

Elze L et al.

Journal of the National Cancer Institute, 2023

37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1

Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma.

Grant RC et al.

Gut, 2021

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

[Molecular genetics study of hereditary predisposition to diffuse gastric cancer in Russian patients].

Tsukanov AC et al.

Voprosy Onkologii, 2013

[Recognition of congenital endometrial carcinoma: the importance of family history and investigation of microsatellite instability in the tumour].

Hoogerbrugge N et al.

Nederlands Tijdschrift Voor Geneeskunde, 2007

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

Overbeek LI et al.

British Journal of Cancer, 2007

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K et al.

Journal of the National Cancer Institute, 2007

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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."