期刊
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
卷 108, 期 3, 页码 -出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/jnci/djv347
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资金
- Cancer Council of New South Wales
- Cancer Council of Victoria
- Cancer Council of Queensland
- Cancer Council of South Australia
- Cancer Council of Tasmania
- Cancer Foundation of Western Australia
- Cancer Research UK [C315/A2621, C490/A10119, C490/A10124, C490/A16561, C490/A6187, C1005/A12677, C1005/A6383, C1005/A7749]
- Eve Appeal (The Oak Foundation)
- National Institutes for Health [P30CA014089, P30CA016056, P30CA15083, P50CA136393, P50CA159981, R01CA122443, R01CA178535, R01CA61107, R01CA152990, R01CA086381]
- National Health & Medical Research Council of Australia (NHMRC) [ID400413, ID400281]
- Pomeranian Medical University
- Queensland Cancer Fund
- Roswell Park Cancer Institute Alliance Foundation
- Rudolf Bartling Foundation
- UK Department of Health
- UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge
- UK National Institute for Health Research Biomedical Research Centre at the University College London Hospitals
- US Army Medical Research and Materiel Command [DAMD17-01-1-0729]
- Cancer Research UK [16561] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10119, 10124] Funding Source: researchfish
Mosaic truncating mutations in the protein phosphatase, Mg2+/Mn2+-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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