Developed a new method for diagnosing breast cancer and hereditary ovarian.

is an algorithm very efficiently own massive sequencing and analysis bioinformatics that allows to detect genetic mutations related to disease.

Barcelona, January 2013.- researchers from the Catalan Institute of Oncology (ICO) at the Research Institute biomedical of Bellvitge (IDIBELL) have developed and validated a new method to diagnose the syndrome of breast cancer and hereditary ovarian mass of the BRCA1 and BRCA2 genes sequencing-based. The model is based on a genetic analysis and bioinformatics which has proved very effective. The new Protocol has been described in an article published in the European Journal of Human Genetics.

In recent years new advances in sequencing techniques have behaved develop new platforms for the sequencing of nucleic acids, called massive 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 of new generation and the possibility of combining different patient samples, using identifiers 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 Lazaro, ICO and the IDIBELL hereditary Cancer program, has developed a complete protocol that allows sequencing all coding regions and adjacent regions of the genes BRCA1 and BRCA2responsible 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 100% of the samples analyzed, in addition to reducing costs and getting the results.

research team of Lazaro Conxi.

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

Up to ten percent of cancers are inherited, which means that she is transmitted from parents 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. These mutations are also associated with other types of cancers.

who we are

the Institute of biomedical research of Bellvitge (IDIBELL) is a research centre created in 2004. Is participated by the Hospital Universitario de Bellvitge of the Catalan Institute of <!-? NS prefix = st1 ns = “urn: schemas-microsoft-com: office:smarttags ’ /–> health , the Catalan Institute of Oncology, and the University of Barcelona. It is located in the Biopol ’ L H ’ L’Hospitalet de Llobregat and is a member of the University of Barcelona HUBc Campus of international excellence. do <! –? NS prefix = o ns = “urn: schemas-microsoft-com: Office” /–>

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article reference

venous L, López-Dóriga Castellsagué E, del Valle J, Menendez M, Turner E, Montes E, costs R, Gomez C, fields or, Pineda M, González S, Moreno V, Brunet J, white I, Serra E, Capella G, Lazarus 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].