Title:
METHOD FOR DETERMINING PRESENCE OR ABSENCE OF RISK OF DEVELOPING CANCER
Document Type and Number:
WIPO Patent Application WO/2018/025971
Kind Code:
A1
Abstract:
In order to provide a method for predicting the risk of developing cancer, DNA samples from blood and cancerous tissues of 2480 cancer patients were prepared, and base sequence analysis was performed on exon regions using an NGS method. As a result, among said cancer patients, seven patients were confirmed to have a germ cell mutation, such as D49H mutation and A159D mutation.
Inventors:
YAMAGUCHI KEN (JP)
KUSUHARA MASATOSHI (JP)
SERIZAWA MASAKUNI (JP)
MOCHIZUKI TOHRU (JP)
OHSHIMA KEIICHI (JP)
HATAKEYAMA KEIICHI (JP)
URAKAMI KENICHI (JP)
OHNAMI SHUMPEI (JP)
AKIYAMA YASUTO (JP)
MARUYAMA KOUJI (JP)
INOUE KENGO (JP)
SHIMODA YUJI (JP)
NAGASHIMA TAKESHI (JP)
ISHIKAWA YOSHINOBU (JP)
KUSUHARA MASATOSHI (JP)
SERIZAWA MASAKUNI (JP)
MOCHIZUKI TOHRU (JP)
OHSHIMA KEIICHI (JP)
HATAKEYAMA KEIICHI (JP)
URAKAMI KENICHI (JP)
OHNAMI SHUMPEI (JP)
AKIYAMA YASUTO (JP)
MARUYAMA KOUJI (JP)
INOUE KENGO (JP)
SHIMODA YUJI (JP)
NAGASHIMA TAKESHI (JP)
ISHIKAWA YOSHINOBU (JP)
Application Number:
PCT/JP2017/028315
Publication Date:
February 08, 2018
Filing Date:
August 03, 2017
Export Citation:
Assignee:
SHIZUOKA PREFECTURE (JP)
SHIZUOKA PREFECTURAL UNIV CORPORATION (JP)
SHIZUOKA PREFECTURAL UNIV CORPORATION (JP)
International Classes:
C12Q1/68; C12N15/09
Foreign References:
| JP2003265187A | 2003-09-24 |
Other References:
LIU, Y. ET AL.: "Analysis of P53 mutaions and their expression in 56 colorectal cancer cell lines", PNAS, vol. 103, no. 4, 2006, pages 976 - 981, XP055238779, ISSN: 1091-6490
KOSUKE YOSHIHARA: "The relationship between TP53 mutations and prognosis in advanced-stage serous ovarian cancers", NIIGATA MEDICAL JOURNAL, vol. 123, no. 8, 1 January 2009 (2009-01-01), pages 394 - 403, XP055590057, ISSN: 0029-0440
NARENDRAN, A. ET AL.: "Mutant p53 in bone marrow stromal cells increases VEGF expression and supports leukemia cell growth", EXPERIMENTAL HEMATOLOGY, vol. 31, 2003, pages 693 - 701, XP055572710, ISSN: 0301-472X
HIROTSUGU KENMOTSU ET AL.: "Jisedai Sequencer o Mochiita Hi Shosaibo Haigan no Idenshi Kaiseki", ANNUAL MEETING OF JAPAN SOCIETY OF CLINICAL ONCOLOGY SHOROKU, 1 January 2014 (2014-01-01), pages 1 - 4, XP055590063, Retrieved from the Internet [retrieved on 20171002]
RIE MAKUUCHI ET AL.: "Bunshi Profile ni Motozuku Igan no Bunrui", ANNUAL MEETING OF JAPAN SOCIETY OF CLINICAL ONCOLOGY SHOROKU, 1 January 2015 (2015-01-01), pages 1 - 4, XP055590068, Retrieved from the Internet [retrieved on 20171002]
MITSUHIRO ISAKA ET AL.: "Project HOPE (Multiomics Kaiseki o Mochiita Gan Kanja Hyoka)-Genpatsusei Haigan Setsujo-rei no Zen Exon Kaiseki Oyobi Zen Idenshi Hatsugen Kaiseki", ANNUAL CONGRESS OF JAPAN SURGICAL SOCIETY, April 2016 (2016-04-01), XP055590073, Retrieved from the Internet [retrieved on 20171002]
ISAMU NISHISHO: "Idenshi no Shindan to Chiryo", BME, vol. 12, no. 2, 1 January 1998 (1998-01-01), pages 3 - 14, XP055590088
YAMAGUCHI, K. ET AL.: "Prevalence of low- penetrant germline TP53 D49H mutation in Japanese cancer patients", BIOMEDICAL RESEARCH, vol. 37, no. 4, 20 August 2016 (2016-08-20), pages 259 - 264, XP055572723, ISSN: 0976-1683
ONCOGENE, vol. 23, 2004, pages 9025 - 9033
HARRIS T.D. ET AL., SCIENCE, vol. 320, 2008, pages 106 - 109
KENT WJ; SUGNET CW; FUREY TS; ROSKIN KM; PRINGLE TH; ZAHLER AM; HAUSSLER D: "The human genome browser at UCSC", GENOME RES, vol. 12, 2002, pages 996 - 1006, XP007901725, Retrieved from the Internet DOI: doi:10.1101/gr.229102. Article published online before print in May 2002
SHERRY ST; WARD MH; KHOLODOV M; BAKER J; PHAN L; SMIGIELSKI EM; SIROTKIN K: "dbSNP: the NCBI database of genetic variation", NUCLEIC ACIDS RES, vol. 29, 2001, pages 308 - 311, XP055125042, Retrieved from the Internet DOI: doi:10.1093/nar/29.1.308
FORBES SA; BEARE D; GUNASEKARAN P; LEUNG K; BINDAL N; BOUTSELAKIS H; DING M; BAMFORD S; COLE C; WARD S: "COSMIC: exploring the world's knowledge of somatic mutations in human cancer", NUCLEIC ACIDS RES, vol. 43, 2015, pages 805 - 811, Retrieved from the Internet
LANDRUM MJ; LEE JM; BENSON M; BROWN G; CHAO C; CHITIPIRALLA S; GU B; HART J; HOFFMAN D; HOOVER J: "ClinVar: public archive of interpretations of clinically relevant variants", NUCLEIC ACIDS RES, vol. 44, 2016, pages 862 - 868, Retrieved from the Internet
PETITJEAN A; MATHE E; KATO S; ISHIOKA C; TAVTIGIAN SV; HAINAUT P; OLIVIER M: "Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database", HUM MUTAT, vol. 28, 2007, pages 622 - 629, Retrieved from the Internet
NAGASAKI M; YASUDA J; KATSUOKA F; NARIAI N; KOJIMA K; KAWAI Y; YAMAGUCHI-KABATA Y; YOKOZAWA J; DANJOH I; SAITO S: "ToMMo Japanese Reference Panel Project and Yamamoto M (2015) Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals", NAT COMMUN, vol. 6, pages 8018, Retrieved from the Internet
HIGASA K; MIYAKE N; YOSHIMURA J; OKAMURA K; NIIHORI T; SAITSU H; DOI K; SHIMIZU M; NAKABAYASHI K; AOKI Y: "Human genetic variation database, a reference database of genetic variations in the Japanese population", J HUM GENET, 2016, Retrieved from the Internet
J.T. ROBINSON; H. THORVALDSDOTTIR; W. WINCKLER ET AL.: "Integrative genomics viewer", NAT. BIOTECHNOL., vol. 29, 2011, pages 24 - 26, XP055103333, DOI: doi:10.1038/nbt.1754
ONCOGENE, vol. 26, 2007, pages 2226 - 2242
See also references of EP 3495494A4
KOSUKE YOSHIHARA: "The relationship between TP53 mutations and prognosis in advanced-stage serous ovarian cancers", NIIGATA MEDICAL JOURNAL, vol. 123, no. 8, 1 January 2009 (2009-01-01), pages 394 - 403, XP055590057, ISSN: 0029-0440
NARENDRAN, A. ET AL.: "Mutant p53 in bone marrow stromal cells increases VEGF expression and supports leukemia cell growth", EXPERIMENTAL HEMATOLOGY, vol. 31, 2003, pages 693 - 701, XP055572710, ISSN: 0301-472X
HIROTSUGU KENMOTSU ET AL.: "Jisedai Sequencer o Mochiita Hi Shosaibo Haigan no Idenshi Kaiseki", ANNUAL MEETING OF JAPAN SOCIETY OF CLINICAL ONCOLOGY SHOROKU, 1 January 2014 (2014-01-01), pages 1 - 4, XP055590063, Retrieved from the Internet
RIE MAKUUCHI ET AL.: "Bunshi Profile ni Motozuku Igan no Bunrui", ANNUAL MEETING OF JAPAN SOCIETY OF CLINICAL ONCOLOGY SHOROKU, 1 January 2015 (2015-01-01), pages 1 - 4, XP055590068, Retrieved from the Internet
MITSUHIRO ISAKA ET AL.: "Project HOPE (Multiomics Kaiseki o Mochiita Gan Kanja Hyoka)-Genpatsusei Haigan Setsujo-rei no Zen Exon Kaiseki Oyobi Zen Idenshi Hatsugen Kaiseki", ANNUAL CONGRESS OF JAPAN SURGICAL SOCIETY, April 2016 (2016-04-01), XP055590073, Retrieved from the Internet
ISAMU NISHISHO: "Idenshi no Shindan to Chiryo", BME, vol. 12, no. 2, 1 January 1998 (1998-01-01), pages 3 - 14, XP055590088
YAMAGUCHI, K. ET AL.: "Prevalence of low- penetrant germline TP53 D49H mutation in Japanese cancer patients", BIOMEDICAL RESEARCH, vol. 37, no. 4, 20 August 2016 (2016-08-20), pages 259 - 264, XP055572723, ISSN: 0976-1683
ONCOGENE, vol. 23, 2004, pages 9025 - 9033
HARRIS T.D. ET AL., SCIENCE, vol. 320, 2008, pages 106 - 109
KENT WJ; SUGNET CW; FUREY TS; ROSKIN KM; PRINGLE TH; ZAHLER AM; HAUSSLER D: "The human genome browser at UCSC", GENOME RES, vol. 12, 2002, pages 996 - 1006, XP007901725, Retrieved from the Internet
SHERRY ST; WARD MH; KHOLODOV M; BAKER J; PHAN L; SMIGIELSKI EM; SIROTKIN K: "dbSNP: the NCBI database of genetic variation", NUCLEIC ACIDS RES, vol. 29, 2001, pages 308 - 311, XP055125042, Retrieved from the Internet
FORBES SA; BEARE D; GUNASEKARAN P; LEUNG K; BINDAL N; BOUTSELAKIS H; DING M; BAMFORD S; COLE C; WARD S: "COSMIC: exploring the world's knowledge of somatic mutations in human cancer", NUCLEIC ACIDS RES, vol. 43, 2015, pages 805 - 811, Retrieved from the Internet
LANDRUM MJ; LEE JM; BENSON M; BROWN G; CHAO C; CHITIPIRALLA S; GU B; HART J; HOFFMAN D; HOOVER J: "ClinVar: public archive of interpretations of clinically relevant variants", NUCLEIC ACIDS RES, vol. 44, 2016, pages 862 - 868, Retrieved from the Internet
PETITJEAN A; MATHE E; KATO S; ISHIOKA C; TAVTIGIAN SV; HAINAUT P; OLIVIER M: "Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database", HUM MUTAT, vol. 28, 2007, pages 622 - 629, Retrieved from the Internet
NAGASAKI M; YASUDA J; KATSUOKA F; NARIAI N; KOJIMA K; KAWAI Y; YAMAGUCHI-KABATA Y; YOKOZAWA J; DANJOH I; SAITO S: "ToMMo Japanese Reference Panel Project and Yamamoto M (2015) Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals", NAT COMMUN, vol. 6, pages 8018, Retrieved from the Internet
HIGASA K; MIYAKE N; YOSHIMURA J; OKAMURA K; NIIHORI T; SAITSU H; DOI K; SHIMIZU M; NAKABAYASHI K; AOKI Y: "Human genetic variation database, a reference database of genetic variations in the Japanese population", J HUM GENET, 2016, Retrieved from the Internet
J.T. ROBINSON; H. THORVALDSDOTTIR; W. WINCKLER ET AL.: "Integrative genomics viewer", NAT. BIOTECHNOL., vol. 29, 2011, pages 24 - 26, XP055103333, DOI: doi:10.1038/nbt.1754
ONCOGENE, vol. 26, 2007, pages 2226 - 2242
See also references of EP 3495494A4
Attorney, Agent or Firm:
HIROTA, Masanori (JP)
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