Title:
DETERMINING MUTATION BURDEN IN CIRCULATING CELL-FREE NUCLEIC ACID AND ASSOCIATED RISK OF DISEASE
Document Type and Number:
WIPO Patent Application WO/2016/001760
Kind Code:
A3
Abstract:
The invention generally relates to methods of assessing an individual's risk of developing a disease associated with accumulation of DNA mutations by determining the mutation burden in their circulating cell-free nucleic acid relative to a reference sequence. The invention further relates to establishing a score indicative of the individual's risk by assessing the individual's mutation burden against a mutation burden continuum containing various thresholds associated with different degrees of risk. The reference sequence and the continuum may be constructed from a variety of sources. In certain aspects, methods of the invention relate to compilation of a database of mutation burdens for individuals along with population characteristics for each individual.
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Inventors:
LEE MARK (US)
MARZIALI ANDREA (CA)
WIGGIN MATTHEW (CA)
PEL JOEL (CA)
SOOD NITIN (US)
MARZIALI ANDREA (CA)
WIGGIN MATTHEW (CA)
PEL JOEL (CA)
SOOD NITIN (US)
Application Number:
PCT/IB2015/001676
Publication Date:
April 07, 2016
Filing Date:
July 02, 2015
Export Citation:
Assignee:
BOREAL GENOMICS INC (CA)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2010014920A1 | 2010-02-04 |
Other References:
DAWSON ET AL.: "Analysis of circulating tumor DNA to monitor metastatic breast cancer", NEW ENGLAND JOURNAL OF MEDICINE, vol. 368, no. 13, 28 March 2013 (2013-03-28), pages 1199 - 1209, ISSN: 0028-4793
NEWMAN ET AL.: "An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage''.", NATURE MEDICINE, vol. 20, no. 5, May 2014 (2014-05-01), pages 548 - 554, XP055227170, ISSN: 1078-8956, DOI: doi:10.1038/nm.3519
SPINDLER ET AL.: "Quantitative cell -free DNA, KRAS, and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan", CLINICAL CANCER RESEARCH, vol. 18, no. 4, 6 January 2012 (2012-01-06), pages 1177 - 1185, ISSN: 1078-0432
NEWMAN ET AL.: "An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage''.", NATURE MEDICINE, vol. 20, no. 5, May 2014 (2014-05-01), pages 548 - 554, XP055227170, ISSN: 1078-8956, DOI: doi:10.1038/nm.3519
SPINDLER ET AL.: "Quantitative cell -free DNA, KRAS, and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan", CLINICAL CANCER RESEARCH, vol. 18, no. 4, 6 January 2012 (2012-01-06), pages 1177 - 1185, ISSN: 1078-0432
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