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

being a more efficient strategy, it has allowed CNIO researchers to validate a hypothesis on how BRCA1/2 work. They also provide clues that might be useful for treatments already being used.

The hypothesis showed them where to look: in the genes of one of the DNA repair pathways. Cells have several ways to repair DNA, and one of them includes the use of BRCA1 and BRCA2 when they are non-mutated. If BRCA1 and BRCA2 do not fulfil their role because they are defective, another repair pathway takes over; if none of these pathways are functional the cancerous cell dies. So researchers hypothesised that there may be SNP risk modulators on this alternative repair route.

The hypothesis was correct. NEIL2 and OGG1, the genes that host the two SNPs that show the highest risk of developing cancer, intervene in the initiation of the alternative repair mechanism to BRCA1/2. "They are also basic genes for eliminating toxic waste generated by oxidative stress from cells," adds Bentez.

The result could also have interesting clinical implications. One of the drugs used against breast cancer that is associated to BRCA1 and BRCA2 mutations called PARP inhibitors acts by deactivating the alternative repair pathway. The authors therefore note in the study that: "These discoveries could have implications not only for determining risk but also in terms of treatment for carriers of BRCA1/2 mutations with PARP inhibitors."


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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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