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PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
Pharoah, Paul D P; Song, Honglin; Dicks, Ed; Intermaggio, Maria P; Harrington, Patricia; Baynes, Caroline; Alsop, Kathryn; Bogdanova, Natalia; Cicek, Mine S; Cunningham, Julie M; Fridley, Brooke L; Gentry-Maharaj, Aleksandra; Hillemanns, Peter; Lele, Shashi; Lester, Jenny; McGuire, Valerie; Moysich, Kirsten B; Poblete, Samantha; Sieh, Weiva; Sucheston-Campbell, Lara; Widschwendter, Martin; Whittemore, Alice S; Dörk, Thilo; Menon, Usha; Odunsi, Kunle; Goode, Ellen L; Karlan, Beth Y; Bowtell, David D; Gayther, Simon A; Ramus, Susan J.
Affiliation
  • Pharoah PDP; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Song H; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Dicks E; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Intermaggio MP; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Harrington P; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Baynes C; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Alsop K; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Bogdanova N; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Cicek MS; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Cunningham JM; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Fridley BL; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Gentry-Maharaj A; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Hillemanns P; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Lele S; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Lester J; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • McGuire V; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Moysich KB; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Poblete S; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Sieh W; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Sucheston-Campbell L; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Widschwendter M; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Whittemore AS; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Dörk T; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Menon U; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Odunsi K; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Goode EL; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Karlan BY; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Bowtell DD; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Gayther SA; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
  • Ramus SJ; Affiliations of authors:CR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory , Cambridge, UK (PDPP, HS, ED, PH, CB); Department of Preventive Medicine, Keck School of Medicine , USC/NorrisComprehensive Cancer Center, University of Southern California , CA (MPI, SAG,
J Natl Cancer Inst ; 108(3)2016 Mar.
Article in En | MEDLINE | ID: mdl-26823519
ABSTRACT
Mosaic truncating mutations in the protein phosphatase, Mg(2+)/Mn(2+)-dependent, 1D (PPM1D) gene have recently been reported with a statistically significantly greater frequency in lymphocyte DNA from ovarian cancer case patients compared with unaffected control patients. Using massively parallel sequencing (MPS) we identified truncating PPM1D mutations in 12 of 3236 epithelial ovarian cancer (EOC) case patients (0.37%) but in only one of 3431 unaffected control patients (0.03%) (P = .001). All statistical tests were two-sided. A combination of Sanger sequencing, pyrosequencing, and MPS data suggested that 12 of the 13 mutations were mosaic. All mutations were identified in post-chemotherapy treatment blood samples from case patients (n = 1827) (average 1234 days post-treatment in carriers) rather than from cases collected pretreatment (less than 14 days after diagnosis, n = 1384) (P = .002). These data suggest that PPM1D variants in EOC cases are primarily somatic mosaic mutations caused by treatment and are not associated with germline predisposition to EOC.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Phosphoprotein Phosphatases / Gene Frequency / Mosaicism / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Middle aged Language: En Journal: J Natl Cancer Inst Year: 2016 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ovarian Neoplasms / Phosphoprotein Phosphatases / Gene Frequency / Mosaicism / Mutation Type of study: Observational_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Middle aged Language: En Journal: J Natl Cancer Inst Year: 2016 Document type: Article