@article{bca7bd67fa604b08a47f5bab0abdb5a7,
title = "Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis",
abstract = "Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that can be applied clinically.",
keywords = "Adaptor Proteins, Signal Transducing, Adult, Aged, Amino Acid Sequence, Colorectal Neoplasms, Hereditary Nonpolyposis, Conserved Sequence, DNA Mismatch Repair, Gene Expression, HEK293 Cells, Humans, Middle Aged, Molecular Diagnostic Techniques, Mutation, Missense, Nuclear Proteins, Protein Stability",
author = "Inga Hinrichsen and Angela Brieger and J{\"o}rg Trojan and Stefan Zeuzem and Mef Nilbert and Guido Plotz",
note = "{\textcopyright}2013 AACR.",
year = "2013",
month = may,
day = "1",
doi = "10.1158/1078-0432.CCR-12-3299",
language = "English",
volume = "19",
pages = "2432--41",
journal = "Clinical Cancer Research",
issn = "1078-0432",
publisher = "American Association for Cancer Research Inc.",
number = "9",
}