Foundation Medicine, Inc.

Alexander Nevin Parker

Philip James Stephens

Doron Lipson

Sean R Downing

Roman Yelensky

Geoffrey Alan Otto

Mikhail G Shapiro

Matthew J Hawryluk

Mima Jarosz

Mirna Jarosz

Gary Palmer

Michael Pellini

Ronald David Collette

Mary Pat Lancelotta

Helena Futscher De Deus

Eric Karl Neumann

Rachel Lauren Erbach

Novel RET fusion molecules and uses are disclosed.

KIF5B-RET fusion molecules and uses thereof

A method of analyzing a tumor sample comprising:

Optimization of multigene analysis of tumor samples

Various embodiments provide interfaces to access genomic testing information and incorporate it into daily physician practice. According to one aspect, a graph-based data model is used that may be used to organizes and revise precision medicine knowledge. In one example structure, gene states are abstracted into alteration groups, where alteration groups are built using reverse engineering actionable information and storing that information within the graph-based data structure. Volumes of genomic alterations and associated information (e.g., journal articles, clinical trial information, therapies, etc.) are analyzed and synthesized into actionable information items viewable on an alteration system in a graph-based data format. According to one embodiment, the system can be configured to focus practitioners on discrete portions of the alteration information on which they can act. According to other aspects, curated information is provided on the system to enable practitioners to make informed decisions regarding the implications of the presence of specific genomic alterations.

System and method for managing genomic information

Novel RET fusion molecules and uses are disclosed. In one embodiment, a KIF5B-RET fusion includes an in-frame fusion of an exon of KIF5B (e.g., one or more exons encoding a kinesin motor domain or a fragment thereof) and an exon of RET (e.g., one or more exons encoding a RET tyrosine kinase domain or a fragment thereof). For example, the KIF5B-RET fusion can include an in-frame fusion of at least exon 15 of KIF5B or a fragment thereof (e.g., exons 1-15 of KIF5B or a fragment thereof) with at least exon 12 of RET or a fragment thereof (e.g., exons 12-20 of RET or a fragment thereof).

Growing community of inventors

Boston, MA, United States of America

Alexander Nevin Parker