Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H727_I728delFs
Back to variants list

MLH1

NM_000249.4:p.H727_I728delFs

Associated Papers

Lynch Syndrome: From Multidisciplinary Management to Precision Prevention.

Dal Buono A et al.

Cancers, 2024

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

Lung Cancer in Patients With Lynch Syndrome: Association or Coincidence?

Majeed U et al.

Clinical Lung Cancer, 2023

The Role of Germline Mutations in Thoracic Malignancies: Between Myth and Reality.

Farinea G et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2023

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.

Vietri MT et al.

Genes, 2022

Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.

Li N et al.

Frontiers in Immunology, 2022

Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A).

Han Q et al.

Frontiers in Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."