The Brigham and Women's Hospital, Inc.

Dana-farber-cancer Institute Inc.

Oregon Health & Science University

The United States Government As Represented by the Department of Veterans Affairs

Novartis Ag

Novartis Pharma Gmbh

Jonathan A Fletcher

Michael C Heinrich

George Daniel Demetri

Christopher C Corless

Brian Jay Druker

Elisabeth Buchdunger

Heikki Joensuu

Sandra Leta Silberman

Sheng Xiao

Renaud Capdeville

Sasa Dimitrijevic

Cheng-Han Lee

David Tuveson

Todd G Kroll

The invention provides assays, methods, systems, compositions, and kits for diagnosing and treating cancer.

Methods and compositions for diagnosing and treating cancer

This disclosure provides tyrosine kinase protein and nucleic acid variants, particularly PDGFRA variants, which are activating forms of these molecules and are linked to neoplasms and/or the development or progression of cancer. The disclosure further provides methods of diagnosis and prognosis, and development of new therapeutic agents using these molecules and fragments thereof, and kits for employing these methods and compositions.

Platelet derived growth factor receptor alpha (PDGFRA) polypeptides comprising activating mutation(s)

Nucleic acids encoding platelet derived growth factor receptor alpha (PDGFRA) activating mutations

Method of detecting a neoplasia associated with an activating platelet derived growth factor receptor alpha (PDGFRA) mutation

4-(4-methylpiperazin-1-ylmethyl)-N-[4-methyl-3-(4-pyridin-3-yl)pyrimidin-2-ylamino)phenyl]-benzamide of the formula Ior a pharmaceutically acceptable salt thereof can be used in the treatment of gastrointestinal stromal tumours.

Treatment of gastrointestinal stromal tumors

An oncogene designated PAX8-PPAR&ggr;1 contains a PAX8 coding region fused to PPAR&ggr; coding region. Molecular characterization of PAX8-PPAR&ggr;1 molecules provides nucleotide and amino acid sequences useful for detection and treatment of certain tumors, particularly thyroid follicular carcinomas.

Method of identifying PAX8-PPAR gamma-nucleic acid molecules

An oncogene designated HMGI(Y)-LAMA4* incorporates a HMGI(Y) domain fused through inversion and translocation to LAMA4*, a novel gene transcript with a epidermal-growth-factor-like/zinc-finger-like motif. Molecular characterization of HMGI(Y)-LAMA4* provides nucleic acid sequences and amino acid sequences useful for detection and treatment of certain tumors.

HMGI(Y)-LAMA4* fusion oncogene, oncoprotein and methods of use

Growing community of inventors

Brookline, MA, United States of America

Jonathan A Fletcher