Title:
METHOD FOR HIGHLY ACCURATELY DISTINGUISHING SPONTANEOUS MUTATIONS OCCURRING IN TUMOR CELLS
Document Type and Number:
WIPO Patent Application WO/2019/009431
Kind Code:
A1
Abstract:
[Problem] To provide a method for highly accurately distinguishing spontaneous mutations that have occurred in tumor cells by identifying spontaneous mutations in the DNA of a subject. [Solution] A method for highly accurately distinguishing, from among spontaneous mutations that have been detected in a subject, the spontaneous mutations that have occurred in tumor cells and the spontaneous mutations that have occurred in normal cells. The method involves: a step for identifying spontaneous mutations in the DNA of the subject; and a step for comparing the identified spontaneous mutations with a database that compiles cancer-specific spontaneous mutations and determining an identified spontaneous mutation to be a tumor cell spontaneous mutation when the identified spontaneous mutation has been compiled in the database as a spontaneous mutation specific to a tumor in at least a prescribed number of cases.
Inventors:
KATO KIKUYA (JP)
KUKITA YOJI (JP)
KATAYAMA KAZUHIRO (JP)
OHKAWA KAZUYOSHI (JP)
TAKADA RYOJI (JP)
KUKITA YOJI (JP)
KATAYAMA KAZUHIRO (JP)
OHKAWA KAZUYOSHI (JP)
TAKADA RYOJI (JP)
Application Number:
PCT/JP2018/025914
Publication Date:
January 10, 2019
Filing Date:
July 09, 2018
Export Citation:
Assignee:
DNA CHIP RESEARCH INC (JP)
OSAKA PREFECTURAL HOSPITAL ORGANIZATION (JP)
OSAKA PREFECTURAL HOSPITAL ORGANIZATION (JP)
International Classes:
C12Q1/68
Other References:
SUN R. ET AL.: "Germline and somatic SNVS calling in NGS panel tumor samples: Approaches to optimize tumor only genomic analysis for cancer precision medicine", J. CLIN. ONCOL., vol. 35, no. 15, May 2017 (2017-05-01), pages e13011
WEERTS M.J.A. ET AL.: "Somatic tumor mutations detected by targeted next generation sequencing in minute amounts of serum-derived cell -free DNA", SCI. REP., vol. 7, no. 1, May 2017 (2017-05-01), pages 1 - 13
HILTEMANN S. ET AL.: "Discriminating somatic and germline mutations in tumor DNA samples without matching normals", GENOME RES., vol. 25, no. 9, 2015, pages 1382 - 1390
WEERTS M.J.A. ET AL.: "Somatic tumor mutations detected by targeted next generation sequencing in minute amounts of serum-derived cell -free DNA", SCI. REP., vol. 7, no. 1, May 2017 (2017-05-01), pages 1 - 13
HILTEMANN S. ET AL.: "Discriminating somatic and germline mutations in tumor DNA samples without matching normals", GENOME RES., vol. 25, no. 9, 2015, pages 1382 - 1390
Attorney, Agent or Firm:
YAGUCHI Taro (JP)
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