Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.S1188*
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MLH3

NM_001040108.2:p.S1188*

Associated Papers

Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.

Tanakaya K et al.

International Journal of Clinical Oncology, 2026

The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.

Grot N et al.

Hereditary Cancer in Clinical Practice, 2025

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.

Jacobson AL et al.

Journal of Medical Genetics, 2025

A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.

Johannesen KM et al.

Clinical Genetics, 2025

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 2024

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf

Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.

Al-Kafaji G et al.

Plos One, 2023

A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.

Nawaz S et al.

Journal of Human Genetics, 2021

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

Jelsig AM et al.

The Application of Clinical Genetics, 2021

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition.

Koivuluoma S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Current status of the genetic susceptibility in attenuated adenomatous polyposis.

Lorca V et al.

World Journal of Gastrointestinal Oncology, 2019

How should we correctly interpret biallelic germline truncating variant of MLH3 in hereditary colorectal cancer?

Yang M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Olkinuora A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Rohlin A et al.

Familial Cancer, 2017

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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."