Mutua Madrileña funds IDIBELL and ICO project to improve diagnosis of Lynch syndrome

The Fundación Mutua Madrileña, in its 10th Call for Aids to Research, has selected a project to improve the diagnosis of Lynch syndrome led by researcher Marta Pineda, from the Hereditary Cancer research group of the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO). The aid is provided with 33,000 euros and has a duration of two years.

Hereditary predisposition to cancer

Lynch syndrome is a to cancer caused by in . Families with Lynch syndrome have a higher risk of developing several types of cancer, especially of colon and endometrium.

Mutational analysis of repair genes often identifies genetic variants of unknown significance, of which we cannot predict its biological significance and clinical consequences. Identification of a variant of unknown significance is an important limitation for proper risk assessment of . Such variants represent a 30% of the alterations detected in mutational analysis repair genes.

The aim of the project funded by the Fundación Mutua Madrileña is to study the pathogenicity of the variants identified in repair genes and MSH6.

The funding of this project will imply the incorporation of the functional study of these variants in the routine of the Molecular Diagnostic Unit of ICO and a significant improvement in molecular diagnostics of Lynch syndrome.

The determination of the pathogenicity of a variant is essential to help Genetic Counselling Units in doing family counselling and allows predictive studies of risk and prevention measures and an adequate monitoring.

Improvements in diagnosis

On the other hand, together with the announcement of this aid, the researchers of the hereditary cancer group at IDIBELL and ICO, under the direction of Gabriel Capellá have published in the Journal of Medical Genetics a study identifying the first PMS2 mutations in Spain. The study also involved the Institute of Medicine and Molecular Oncology of Asturias (IMOMA) and the University of Frankfurt.

Mutational analysis of PMS2 is particularly complex since there are multiple pseudogenes (sequences similar to that of our genes but with no protein expression capacity) that hinder it. The IMOMA uses a special methodology that avoids pseudogenes and identifies mutations in PMS2 in a more reliable way. Subsequently, the functional study of variants of unknown significance made by ICO and the University of Frankfurt has allowed classifying the variants identified in the PMS2 gene.

This exhaustive strategy of molecular study in the genetic analysis of PMS2 gene has allowed the identification of mutations responsible for the syndrome in 69% of the analyzed patients.

More information: Journal of Medical Genetics. doi: 10.1136/jmedgenet-2012-101511

Related Stories

A new molecular mechanism in breast cancer development

Nov 15, 2011

About 10% of breast cancers are due to mutations in genes called BRCA1 and BRCA2. However, the molecular mechanism by which alteration of these genes greatly increases the risk of cancer is not fully understood. In a new ...

Recommended for you

Mutations need help from aging tissue to cause leukemia

2 hours ago

Why are older people at higher risk for developing cancer? Prevailing opinion holds that, over time, your body's cells accumulate DNA damage and that eventually this damage catches up with the body in a way ...

Specific oxidation regulates cellular functions

7 hours ago

For a long time, hydrogen peroxide has been considered as a dangerous metabolite that can damage cells through oxidation. This, however, is not its only role in the cell. Scientists from the German Cancer Research Center ...

New disease mechanism discovered in lymphoma

7 hours ago

Programmed cell death is a mechanism that causes defective and potentially harmful cells to destroy themselves. It serves a number of purposes in the body, including the prevention of malignant tumor growth. ...

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.