公开(公告)号：US20170014413A1

公开(公告)日：2017-01-19

申请号：US15045716

申请日：2016-02-17

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Sean R. Downing ,  Matthew J. Hawryluk ,  Doron Lipson ,  Alexander N. Parker ,  Philip James Stephens

IPC: A61K31/517 ,  A61K31/47 ,  A61K31/513 ,  A61K31/4412 ,  A61K31/404

CPC classification number: A61K31/517 ,  A61K31/404 ,  A61K31/4412 ,  A61K31/444 ,  A61K31/47 ,  A61K31/513 ,  C07K14/82 ,  C07K2319/00 ,  C12N9/14 ,  C12N15/1135 ,  C12Q1/6886 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158

Abstract: 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).

Abstract translation: 公开了新型RET融合分子和用途。 在一个实施方案中，KIF5B-RET融合包括KIF5B的外显子（例如，编码驱动蛋白运动区或其片段的一个或多个外显子）和RET的外显子（例如，一个或多个外显子编码 RET酪氨酸激酶结构域或其片段）。 例如，KIF5B-RET融合可以包括至少外显子15的KIF5B或其片段（例如，KIF5B的外显子1-15或其片段）与至少外显子12的RET或片段的片段内融合 （例如，RET的外显子12-20或其片段）。

公开(公告)号：US20160375025A1

公开(公告)日：2016-12-29

申请号：US15200088

申请日：2016-07-01

Applicant: FOUNDATION MEDICINE, INC. ,  UCL Business PLC

Inventor： Chris Hendrik Boshoff ,  Timothy Robert Fenton ,  Matthias Alexander Lechner ,  Philip James Stephens ,  Matthew J. Hawryluk ,  Garrett Michael Frampton ,  Roman Yelensky

IPC: A61K31/519 ,  C12Q1/68 ,  A61N5/10 ,  A61K31/506

CPC classification number: A61K31/519 ,  A61K31/05 ,  A61K31/282 ,  A61K31/337 ,  A61K31/352 ,  A61K31/366 ,  A61K31/404 ,  A61K31/4196 ,  A61K31/436 ,  A61K31/439 ,  A61K31/454 ,  A61K31/4709 ,  A61K31/4745 ,  A61K31/496 ,  A61K31/505 ,  A61K31/506 ,  A61K31/513 ,  A61K31/52 ,  A61K31/5377 ,  A61K31/555 ,  A61K33/24 ,  A61K39/39558 ,  A61K2039/505 ,  A61N5/00 ,  A61N5/10 ,  C07K16/2863 ,  C12Q1/6883 ,  C12Q1/6886 ,  C12Q1/708 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  G01N33/571 ,  A61K2300/00

Abstract: Methods of treating a head and neck cancer are disclosed.

公开(公告)号：US12239648B2

公开(公告)日：2025-03-04

申请号：US17817619

申请日：2022-08-04

Applicant: Foundation Medicine, Inc.

Inventor： Sean R. Downing ,  Matthew J. Hawryluk ,  Doron Lipson ,  Alexander N. Parker ,  Philip James Stephens

IPC: A61K31/517 ,  A61K31/404 ,  A61K31/4412 ,  A61K31/444 ,  A61K31/47 ,  A61K31/513 ,  C07K14/82 ,  C12N9/14 ,  C12N15/113 ,  C12Q1/6886

Abstract: Novel RET fusion molecules and uses are disclosed.

公开(公告)号：US11725247B2

公开(公告)日：2023-08-15

申请号：US16080421

申请日：2017-02-27

Applicant: FOUNDATION MEDICINE, INC. ,  VANDERBILT UNIVERSITY

Inventor： Garrett Michael Frampton ,  Roman Yelensky ,  James Xin Sun ,  Douglas Buckner Johnson ,  Christine Marie Lovly ,  Jeffrey Alan Sosman ,  David Fabrizio ,  Philip James Stephens ,  Vincent A. Miller

IPC: C12Q1/6886 ,  C07K16/28 ,  G16H50/30 ,  G16H50/20 ,  A61P35/00 ,  G16B20/00 ,  G06F17/15 ,  A61K39/00

CPC classification number: C12Q1/6886 ,  A61P35/00 ,  C07K16/2818 ,  G06F17/15 ,  G16B20/00 ,  G16H50/20 ,  G16H50/30 ,  A61K2039/505 ,  C12Q2600/106 ,  C12Q2600/156

Abstract: Methods and compositions for treating cancer such as melanomas are disclosed.

公开(公告)号：US11421265B2

公开(公告)日：2022-08-23

申请号：US16245301

申请日：2019-01-11

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Doron Lipson ,  Geoffrey Alan Otto ,  Alexander Nevin Parker ,  Philip James Stephens ,  Sean R. Downing ,  Mima Jarosz ,  Mikhail G. Shapiro ,  Roman Yelensky

IPC: C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6886 ,  G16B20/10 ,  G16B30/10 ,  G16B20/20 ,  G16B20/00 ,  G16B30/00

Abstract: A method of analyzing a tumor sample comprising: (a) acquiring a library comprising a plurality of tumor members from a tumor sample; (b) contacting the library with a bait set to provide selected members; (c) acquiring a read for a subgenomic interval from a tumor member from said library; (d) aligning said read; and (e) assigning a nucleotide value (e.g., calling a mutation) from said read for the preselected nucleotide position, thereby analyzing said tumor sample.

公开(公告)号：US11286532B2

公开(公告)日：2022-03-29

申请号：US15877035

申请日：2018-01-22

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Maureen T. Cronin ,  Garrett Michael Frampton ,  Doron Lipson ,  Vincent A. Miller ,  Gary Palmer ,  Jeffrey S. Ross ,  Philip James Stephens ,  Roman Yelensky

IPC: C12Q1/6886 ,  A61K31/565 ,  A61K31/4196 ,  A61K31/675 ,  A61K31/439 ,  A61K31/567 ,  A61K31/416 ,  A61K31/423 ,  A61K31/428 ,  A61K31/437 ,  A61K31/4439 ,  A61K31/472 ,  A61K31/536 ,  A61K31/5415 ,  A61K45/06 ,  C07K14/72 ,  C07K16/28 ,  A61K31/436

Abstract: Novel mutant ESR1 molecules and uses are disclosed.

公开(公告)号：US11158425B2

公开(公告)日：2021-10-26

申请号：US14463068

申请日：2014-08-19

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Helena Futscher de Deus ,  Rachel Lauren Erbach ,  Ronald David Collette ,  Alexander N. Parker ,  Michael Pellini ,  Gary Palmer ,  Mary Pat Lancelotta ,  Matthew J. Hawryluk ,  Philip James Stephens ,  Eric Karl Neumann

IPC: G16H50/20 ,  G16H10/60 ,  G16C99/00 ,  G16H10/20 ,  G16H10/40 ,  G16H70/60 ,  G16H15/00

Abstract: 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.

公开(公告)号：US11058687B2

公开(公告)日：2021-07-13

申请号：US16654582

申请日：2019-10-16

Applicant: FOUNDATION MEDICINE, INC. ,  UCL BUSINESS LTD

Inventor： Chris Hendrik Boshoff ,  Timothy Robert Fenton ,  Matthias Alexander Lechner ,  Philip James Stephens ,  Matthew J. Hawryluk ,  Garrett Michael Frampton ,  Roman Yelensky

IPC: A61K31/551 ,  A61K31/505 ,  A61P35/00 ,  A61K31/519 ,  C12Q1/70 ,  A61K31/506 ,  A61K31/454 ,  A61K31/52 ,  A61K31/404 ,  A61K31/4196 ,  A61K33/24 ,  A61K31/282 ,  A61K31/337 ,  A61K31/513 ,  A61K39/395 ,  A61K31/436 ,  A61K31/05 ,  A61K31/4709 ,  A61K31/496 ,  A61K31/5377 ,  A61K31/352 ,  A61N5/00 ,  C12Q1/6886 ,  A61K31/366 ,  A61K31/555 ,  A61K31/439 ,  A61K31/4745 ,  C07K16/28 ,  C12Q1/6883 ,  G01N33/571 ,  A61N5/10 ,  A61K39/00

Abstract: Methods of treating a head and neck cancer are disclosed.

公开(公告)号：US20200299775A1

公开(公告)日：2020-09-24

申请号：US16683575

申请日：2019-11-14

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Matthew J. Hawryluk ,  Doron Lipson ,  Vincent A. Miller ,  Philip James Stephens

IPC: C12Q1/6886 ,  C12N15/113 ,  C12N9/12 ,  C07K14/47 ,  A61K31/519 ,  A61K31/553 ,  A61K45/06

Abstract: Novel NTRK1 fusion molecules, detection reagents, and uses and kits for evaluating, identifying, assessing and/or treating a subject having a cancer are disclosed.

公开(公告)号：US20200020430A1

公开(公告)日：2020-01-16

申请号：US16579500

申请日：2019-09-23

Applicant: FOUNDATION MEDICINE, INC.

Inventor： Helena Futscher de Deus ,  Rachel Lauren Erlich ,  Ronald David Collette ,  Alexander Nevin Parker ,  Michael Pellini ,  Gary Palmer ,  Mary Patricia Lancelotta ,  Matthew J. Hawryluk ,  Philip James Stephens ,  Eric Karl Neumann

IPC: G16H10/60

Abstract: A system for managing genomic information includes a processor to collect and store biomarker data, receive and store patient-specific pathology information, generate a graph-based data structure of complex data elements arranged into a walkable graph representation that includes at least one of a disease alteration group association (DAGA) element representing a relationship between a disease and an alteration group (AG), at least one of a disease therapy association (DTA) element representing a relationship between a disease and a therapy for treating the disease, and a therapy genomic effect (TGE) element representing a relationship between a gene and a known effect of a therapy on the gene. The processor follows links in the walkable graph representation to determine at least one inferred path, generates inferential matches to actionable items based on an accumulated trust score of the at least one inferred path, and determines a treatment decision for a cancer patient.