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자료유형
학술저널
저자정보
저널정보
대한산부인과학회 Obstetrics & Gynecology Science Obstetrics & Gynecology Science 제61권 제3호
발행연도
2018.1
수록면
328 - 336 (9page)

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ObjectiveCirculating cell-free tumor DNA (cfDNA) is the DNA released by apoptotic and necrotic cells of the primary tumor intothe blood during the period of tumor development. The cfDNA reflects the genetic and epigenetic alterations of theoriginal tumor. TP53 mutations are a defining feature of high-grade serous ovarian carcinoma. We optimized themethods for detecting TP53 mutations in cfDNA from blood samples. We confirmed the correlation of TP53 mutationin primary ovarian cancer tissue and it in cfDNA using digital polymerase chain reaction (dPCR). MethodsWe found 12 frequent mutation sites in TP53 using The Cancer Genome Atlas and Catalogue of Somatic Mutationsin Cancer data and manufactured 12 primers. The mutations in tissues were evaluated in fresh-frozen tissue (FFT) andformalin-fixed paraffin-embedded tissue (FFPET). We performed a prospective analysis of serial plasma samples collectedfrom 4 patients before debulking surgery. We extracted cfDNA and calculated its concentration in blood. dPCR was usedto analyze TP53 mutations in cfDNA, and we compared TP53 mutations in ovarian cancer tissue with those in cfDNA. ResultsTen primers out of 12 detected the presence of TP53 mutations in FFT, FFPET, and cfDNA. In FFT and FFPET tissue,there were no significant differences. The average cfDNA concentration was 2.12±0.59 ng/mL. We also confirmed thatmutations of cfDNA and those of FFT were all in R282W site. ConclusionThis study developed detection methods for TP53 mutations in cfDNA in ovarian cancer patients using dPCR. Theresults demonstrated that there are the same TP53 mutations in both ovarian cancer tissue and cfDNA.

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