Developed a new method for diagnosing hereditary ovarian and breast cancer

21 01 2013

It's an algorithm of mass sequencing and analysis bioinformatics which allows very efficiently detect genetic mutations related to disease

Equipo de investigación de la Dra. Conxi Lázaro, responsable del estudio.

Research team of the Dra. Conxi Lazarus, Head of the study.


Researchers from the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have been developed and validated a new method to diagnose the syndrome of breast and ovarian cancer hereditary based on massive sequencing of the genes BRCA1 and BRCA2. The model is based on a genetic analysis and bioinformatics which has been proven very effective. The new Protocol has been described in an article published in the magazine European Journal of Human Genetics.

In recent years new advances in sequencing techniques have behaved develop new platforms for the sequencing of nucleic acids, so-called mass sequencing or next-generation sequencing platforms. These technological improvements have brought a revolution in biomedical research, in the field of genetics and genomics. The appearance of sequencers for the new generation and the possibility of combining different patient samples, using IDs has allowed to adapt these new technologies in the field of genetic diagnosis.

Through the use of a massive next-generation sequencing platform, the team led by researcher Conxi Lazarus, ICO and the IDIBELL hereditary Cancer program, He has developed a complete protocol that allows sequencing all coding regions and adjacent regions of the genes BRCA1 and BRCA2, responsible for the hereditary ovarian and breast cancer.


Massive sequencing algorithm

“This approach has allowed to identify all point mutations and small deletions and insertions analyzed, even in regions of high technical difficulty, such as the homopolimericas regions”, explains the researcher at the IDIBELL-ICO. The developed protocol is an algorithm of mass sequencing and analysis own bioinformatics which has proved to be very efficient in the detection of all existing mutations and to eliminate false positives.

The validation of this algorithm for diagnosing hereditary breast and ovarian cancer syndrome has shown a sensitivity and specificity of the 100% in the analyzed samples, In addition to reducing costs and getting the results.

Also, the research team led by Lazarus is implementing the use of this approach by the genes responsible for hereditary colorectal cancer, as the polyposis and Lynch syndrome.

Up to ten percent of cancers are hereditary, which means that they are transmitted from parents to children genetic mutations that predispose to suffer various types of tumors. The identification of these mutations is very important to prevent the development of tumors in people who have familial predisposition.

Breast cancer and hereditary ovarian syndrome is one of the types of hereditary cancer that affects more people. The disease is caused by mutations in the BRCA1 and BRCA2 genes. Estas mutaciones también están relacionadas con otros tipos de cánceres.


The article reference

Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M,González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. European Journal of Human Genetics. Dec 19. DOI: 10.1038/ejhg.2012.270. [Epub ahead of print]. [en línea] Barcelona (ESP):, 21 de enero de 2013 [REF. 16 in January of 2013] Available on Internet:



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