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Genetische Empfänglichkeit für Brustkrebs: ein neuer, genauerer diagnostischer Test für Mutationsscreening


News provided by

Genomic Vision

May 29, 2012, 03:00 ET

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PARIS, May 29, 2012 /PRNewswire/ --

Ein diagnostischer Test unter Verwendung eines molekularen Kämmens, um ein Screening nach der genetischen Empfänglichkeit für Brust- und Eierstockkrebs auf Grund der BRCA1 und BRCA2 Gene durchzuführen, hat neue komplexe strukturelle Mutationen in diesen beiden Genen bestätigt. Gemäß den Ergebnissen einer Studie, die in der Juniausgabe von Human Mutation(1) veröffentlicht worden ist, könnte der Test, der sich in der Entwicklung befindet, als ein wichtiges komplementäres Werkzeug für gegenwärtige Screening-Methoden angewandt werden.

"Die Wirksamkeit der gegenwärtigen Screening-Verfahren bleibt begrenzt, auf Grund des sehr hohen Anteils der repetitiven und schwierig zu entschlüsselnden Genomsequenzen in den BRCA1- und BRCA2-Genen. Es besteht daher ein wirklicherBedarf an alternativen Technologien", erklärt Dr. Maurizio Ceppi, Projektmanager von Genomic Vision und Koautor der Studie.

Erbmutationen auf einem der zwei BRCA-Gene (für BRust CA 1 und 2) bedeutet, dass damit das Risiko der Entwicklung von Brustkrebs zehn bis 20-mal höher ist und dass diese Mutationen direkt für 5 bis 10% aller (Brustkrebs-)Fälle pro Jahr verantwortlich sind. Diese Mutationen bestehen aus kleinen Veränderungen, aber auch komplexen Umgruppierungen im Genom, die weit schwieriger zu charakterisieren sind, selbst dann, wenn die wirkungsvollsten Technologien verwendet werden, wie etwa Next-Generation-Sequencing.

Der von Genomic Vision entwickelte Test verwendet die durch Eigentumsrecht geschützte Technologie des molekularen Kämmens, mit entdeckt vom CEO, Dr Aaron Bensimon. "Der zusätzliche Nutzen dieses Verfahrens liegt in dem Nachweis und in der Charakterisierung von großen Genom-Umgruppierungen, insbesondere von Tandemduplikationen, die oft durch andere Prozesse nicht korrekt charakterisiert werden. Der Testkönnte zusätzlich zu anderen gängigen Diagnosemethoden verwendet werden, insbesondere bei Patienten, für die eine Sequenzierung keine schädlichen Mutationen nachweist", understreicht Maurizio Ceppi.

Die Studie wurde in Zusammenarbeit mit dem Curie Institut durchgeführt, ein Pilotzentrum für die Behandlung von Frauen mit einem hohen Risiko an Brustkrebs.

10% der weiblichen Bevölkerung erkrankt an Brustkrebs. Etwa 1,4 Millionen Frauen werden jedes Jahr weltweit mit dieser Krankheit diagnostiziert und 460.000 sterben daran.

Die molekulare Kammtechnologie, die von Genomic Vision angewandt wird, ermöglicht die strukturelle und funktionelle Analyse von einzelnen DNA Molekülen mit einer hohen Auflösung. DNA-Fasern werden auf Glasplatten gezogen, als würden sie "gekämmt" werden, und gleichmäßig über die gesamte Oberfläche angeordnet. Es ist dann möglich, genetische Anomalien zu identifizieren, indem Gene oder besondere Sequenzen auf dem Genom des Patienten lokalisiert und direkt sichtbar gemacht werden, unter Verwendung von genetischen Markern, ein Ansatz, der von Genomic Vision unter dem Namen Genomic Morse Code entwickelt worden ist.

(1) Literaturhinweise:

A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2. Cheeseman, K.,Rouleau, E.,Vannier,A., Thomas, A., Briaux, A., Lefol, C., Walrafen, P., Bensimon, A., Lidereau,R., Conseiller, E. and Ceppi, M. (2012), Hum.Mutat., 33:998-1009. doi: 10.1002/humu.22060

Lesen Sie das Dokument online: http://onlinelibrary.wiley.com/doi/10.1002/humu.22060/abstract

Schauen Sie sich die Präsentation an: http://www.youtube.com/watch?v=M-0NvZ5HG78

Mehr Informationen über Genomic Vision auf: http://www.genomicvision.com

SOURCE Genomic Vision

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