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International consortium discovers 2 genes that modulate risk of breast and ovarian cancer
Date:4/4/2014

Today we know that women carrying BCRA1 and BCRA2 gene mutations have a 43% to 88% risk of developing from breast cancer before the age of 70. Taking critical decisions such as opting for preventive surgery when the risk bracket is so wide is not easy. Spanish National Cancer Research Centre (CNIO) researchers are conducting a study that will contribute towards giving every woman far more precise data about her personal risk of suffering from cancer.

The paper has been authored by 200 researchers from 55 research groups from around the world and describes two new genes that influence the risk of women developing breast and ovarian cancer when they are carriers of BCRA1 and BCRA2 mutations.

According to Ana Osorio, lead author of the study and a researcher in the Human Genetics Group, at CNIO: "The aim is to create a test that includes all known genetic variants that affect the risk of developing cancer, and at what age, in order to be able to compile a personalised profile for each patient." Osorio and Javier Benitez, the Director of the CNIO's Human Cancer Genetics Programme, have jointly coordinated the work of all the participants in the study.

The finding is part of an international effort by the scientific community to get a more precise understanding of genomic information. Researchers are trying to identify genes associated with cancer as well as the reasons why the same mutated gene affects different people in different ways.

In the specific case of BRCA1 and BRCA2 genes, malfunctions may be caused by thousands of different mutations. However, the effects of these mutations can depend on other DNA variants found in other genes. These DNA variants may be caused by a single change in a chemical component from the 3 billion that make up the human genome. These single changes, known as SNPs (Single-nucleotide polymorphisms), do not inactivate genes and nor are they pathological in and of themselves, but they can play
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Contact: Nuria Noriega
comunicacion@cnio.es
Centro Nacional de Investigaciones Oncologicas (CNIO)
Source:Eurekalert  

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International consortium discovers 2 genes that modulate risk of breast and ovarian cancer
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