Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H518_E519del2
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MLH1

NM_000249.4:p.H518_E519del2

Associated Papers

Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.

Preti B et al.

Current Oncology (toronto, Ont.), 2023

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.

Walker R et al.

Familial Cancer, 2023

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Pierre-Noël E et al.

Familial Cancer, 2022

Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.

Unknown Author

Familial Cancer, 2020

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.

Geurts-Giele WR et al.

Molecular Genetics & Genomic Medicine, 2019

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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."