Methods for the diagnosis and prognosis of cancer

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 15/11 (2006.01) C07H 21/02 (2006.01) C07H 21/04 (2006.01) C07K 1/00 (2006.01) C07K 14/00 (2006.01) C07K 17/00 (2006.01) C12N 15/09 (2006.01) C12N 15/85 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01) G01N 33/53 (2006.01) G01N 33/574 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2250854

The invention provides diagnostic and prognostic methods which comprise determining the level of expression of the tumor suppressor gene pRb2/p130. Because the relative level of pRb2/p130 expression correlates with the presence of cancer, tumor grade, and patient prognosis, these methods may be used to detect cancer, to make treatment decisions, to predict patient outcome, and to predict the risk of cancer in disease-free individuals. The invention further provides methods for the detection of mutations and polymorphisms in the pRb2/p130 gene, which may be used to characterize genetic events associated with tumor formation, to trace the parental origin of mutations, to identify carriers of germline mutations, and to identify individuals with a predisposition to cancer.

L'invention concerne des procédés de diagnostic et de pronostic, consistant à déterminer le niveau d'expression du gène pRb2/p130 de suppression des tumeurs. Etant donné que le niveau relatif d'expression de ce gène correspond à la présence de cancer, à un grade d'une tumeur et au pronostic du patient, on peut utiliser ces procédés pour détecter le cancer, pour prendre des décisions de traitement et pour prédire l'évolution de l'état du patient, ainsi que le risque de cancer chez des individus ne présentant pas de maladies. L'invention concerne en outre des procédés de détection de mutations et de polymorphismes dans le gène pRb2/p130, procédés utiles pour caractériser des événements génétiques associés à une formation de tumeur, pour rechercher l'origine parentale de ces mutations, pour identifier des vecteurs de mutations de la lignée germinale, de même que pour identifier des individus prédisposés au cancer.

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