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A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory

Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diag...

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Autores principales: Van Lier, Margot GF, Wagner, Anja, Van Leerdam, Monique E, Biermann, Katharina, Kuipers, Ernst J, Steyerberg, Ewout W, Dubbink, Hendrikus Jan, Dinjens, Winand NM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837620/
https://www.ncbi.nlm.nih.gov/pubmed/19929944
http://dx.doi.org/10.1111/j.1582-4934.2009.00977.x
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author Van Lier, Margot GF
Wagner, Anja
Van Leerdam, Monique E
Biermann, Katharina
Kuipers, Ernst J
Steyerberg, Ewout W
Dubbink, Hendrikus Jan
Dinjens, Winand NM
author_facet Van Lier, Margot GF
Wagner, Anja
Van Leerdam, Monique E
Biermann, Katharina
Kuipers, Ernst J
Steyerberg, Ewout W
Dubbink, Hendrikus Jan
Dinjens, Winand NM
author_sort Van Lier, Margot GF
collection PubMed
description Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diagnosis of LS is complicated by the absence of a pre-morbid phenotype and germline mutation analysis is expensive and time consuming. Therefore it is standard practice to precede germline mutation analysis by a molecular diagnostic work-up of tumours, guided by clinical and pathological criteria, to select patients for germline mutation analysis. In this review we address these molecular analyses, the central role for the pathologist in the selection of patients for germline diagnostics of LS, as well as the molecular basis of LS.
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spelling pubmed-38376202015-04-24 A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory Van Lier, Margot GF Wagner, Anja Van Leerdam, Monique E Biermann, Katharina Kuipers, Ernst J Steyerberg, Ewout W Dubbink, Hendrikus Jan Dinjens, Winand NM J Cell Mol Med Reviews Lynch syndrome (LS) is caused by mutations in mismatch repair genes and is characterized by a high cumulative risk for the development of mainly colorectal carcinoma and endometrial carcinoma. Early detection of LS is important since surveillance can reduce morbidity and mortality. However, the diagnosis of LS is complicated by the absence of a pre-morbid phenotype and germline mutation analysis is expensive and time consuming. Therefore it is standard practice to precede germline mutation analysis by a molecular diagnostic work-up of tumours, guided by clinical and pathological criteria, to select patients for germline mutation analysis. In this review we address these molecular analyses, the central role for the pathologist in the selection of patients for germline diagnostics of LS, as well as the molecular basis of LS. Blackwell Publishing Ltd 2010 2009-11-19 /pmc/articles/PMC3837620/ /pubmed/19929944 http://dx.doi.org/10.1111/j.1582-4934.2009.00977.x Text en © 2009 The Authors Journal compilation © 2010 Foundation for Cellular and Molecular Medicine/Blackwell Publishing Ltd
spellingShingle Reviews
Van Lier, Margot GF
Wagner, Anja
Van Leerdam, Monique E
Biermann, Katharina
Kuipers, Ernst J
Steyerberg, Ewout W
Dubbink, Hendrikus Jan
Dinjens, Winand NM
A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title_full A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title_fullStr A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title_full_unstemmed A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title_short A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory
title_sort review on the molecular diagnostics of lynch syndrome: a central role for the pathology laboratory
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837620/
https://www.ncbi.nlm.nih.gov/pubmed/19929944
http://dx.doi.org/10.1111/j.1582-4934.2009.00977.x
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