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Protocolo basado en levadura para identificar mutaciones missense de los genes BRCA1/2 (genes de cáncer de mama 1 y 2)


Oferta Tecnológica
Un instituto de investigación italiano ha desarrollado un nuevo protocolo basado en levadura que consiste en un ensayo preclínico para la detección y caracterización de los genes de cáncer de mama 1 y 2, así como un enfoque innovador para identificar y validar nuevas dianas de pacientes y realizar una terapia personalizada. Los genes BRCA1 y BRCA2 son genes muy polimórficos que aparecen mutados en familias con alto riesgo de padecer cáncer de mama. El equipo de investigación ofrece un ensayo preclínico basado en levadura para diferenciar mutaciones asociadas con el cáncer o patógenas de polimorfismos neutros. El instituto busca socios con el fin de establecer acuerdos de investigación y financiación.


A Yeast-Based Protocol to identify BRCA1/2 (BReast CAncer gene 1 and 2) cancer-associated missense mutations
An Italian Research Institute has developed an innovative Yeast-Based Protocol made up of a pre-clinical test for screening and characterizing BReast CAncer gene 1 and 2 and on a related innovative approach to identify and validate new targets of patients for a more personalized therapy. The group is looking for research cooperation agreements and financial agreements.
The Italian Research group started from the assumption that many human disease-associated genes have highly conserved yeast counterparts (50%) and, therefore, Saccharomyces cerevisiae (i.e. the most common yeast) has been proven to be a powerful tool for mechanistic studies of clinically relevant compounds.
In addition, is has been largely reported that genome wide analysis of yeast strains with deletions of drug target genes can be used to monitor compound activities in vivo.
The group proposed the clinical innovative yeast-based protocol that distinguishes the two phases of:
1. test for screening and characterizing BRCA1 BReast CAncer gene 1 and BReast CAncer gene 2 BRCA2 cancer related missense variants;
2. identifying and validating new targets for a more personalized therapy.
The research group has, indeed, studied the effect of the expression of the tumor suppressor BRCA1 (BReast CAncer gene 1 and 2) in yeast for several years.
The developed test is suitable to distinguish pathogenic or cancer-associated mutations of BRCA1/2 in order to identify cancer-associated missense mutations and to identify and validate new targets of patients for a more personalized therapy.
BRCA1 and BRCA2 are very polymorphic genes that have been found mutated in families with high risk to breast cancer. As it is very easy and reasonable evaluate the functional impact of mutations producing truncated proteins that indeed are not functional and presumably "pathogenic", the challenge for geneticists is to identify and classify those mutants carrying one amino acid different from wild type proteins. The research group proposed a yeast-based pre-clinical test suitable to distinguish pathogenic or cancer-associated mutations from neutral polymorphisms. Currently, this easy and very feasible assay is under development and need to be validated by screening simultaneously a larger number of mutations.
This test can be very useful for "classifying" mutations found in patients and for designing and planning both diagnostic and personalized therapeutic strategies.
The italian researchers are looking for research cooperation agreements with clinics and biotech companies in order to reach new important solutions. The partner sought should be able to validate the protocol by screening simultaneously of a larger number of mutations.
Furthermore the researchers are also interested in financial agreements with private companies interested in investing on this innovative approach.
Advantages and Innovations:
The proposed approach is very innovative because it uses a strong genetic system for pre-clinical screening to identify those patients who are potentially more responsive/sensitive to a specific therapy.
Advantages to use yeast as cellular recipient for "human genetic" screening are largely reported. Important contributions on the molecular basis of neurodegenerative diseases, such as: Parkinson and Huntington diseases, are due to genome-wide screening carried out in yeast.
Yeast is very easy to cultivate and to manipulate; developing yeast experimental plans it is not very expensive. Therefore, the novel strategies we proposed could be applied to clinics very easily and could potentially give information for a more efficient therapy. The interaction of human genes with yeast deoxyribonucleic acid (DNA) metabolism has largely reported. Like in humans, BRCA1 has been recently shown to interact with DNA repair system in yeast confirming the novelty and the strength of this yeast-based approach.
Stage of Development:
Available for demonstration
Secret Know-how,Exclusive Rights

Partner sought

Type and Role of Partner Sought:
The Italian Institute is looking for research cooperation agreements. These agreements are addressed to industrial or research partners, e.g. clinics and biotech companies, willing to carry on further research co-development, namely the ideal partner is able to validate the protocol by screening simultaneously a larger number of mutations.

Private companies willing to cooperate through financial agreements are also sought.


Type and Size of Client:
R&D Institution
Already Engaged in Trans-National Cooperation:
Languages Spoken:


Technology Keywords:
06001003 Citología, cancerología, oncología
06001002 Investigaciones clínicas, ensayos
06001012 Investigaciones médicas
06001009 Terapia genética - ADN
06001018 Virus, virología / antibióticos / bacteriología