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E-Poster Display

1198P - Digital droplet PCR-based detection of TP53 mutations in circulating DNA for the disease monitoring in patients with hereditary ovarian or breast cancer

Date

17 Sep 2020

Session

E-Poster Display

Topics

Genetic Testing and Counselling;  Genetic and Genomic Testing

Tumour Site

Presenters

Evgeny Imyanitov

Citation

Annals of Oncology (2020) 31 (suppl_4): S725-S734. 10.1016/annonc/annonc262

Authors

E. Imyanitov1, S. Aleksakhina1, T. Gorodnova2, E. Anisimova3, L. Gigolayeva4, K. Zagorodnev5, I. Berlev2, P. Krivorotko4, G. Yanus5, A. Iyevleva1

Author affiliations

  • 1 Department Of Tumor Growth Biology, N.N. Petrov Institute of Oncology, 197758 - Saint-Petersburg/RU
  • 2 Department Of Gynecology, N.N. Petrov Institute of Oncology, 197758 - Saint-Petersburg/RU
  • 3 Department Of Outpatient Care, Leningrad Regional Oncological Clinic, 191104 - Saint-Petersburg/RU
  • 4 Department Of Mammology, N.N. Petrov Institute of Oncology, 197758 - Saint-Petersburg/RU
  • 5 Department Of Clinical Genetics, St.-Petersburg Pediatric Medical University, 194100 - Saint-Petersburg/RU

Resources

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Abstract 1198P

Background

TP53 mutations are present in almost all BRCA1-associated hereditary breast tumours and high-grade serous ovarian carcinomas (OC). Therefore, they are likely to be useful for disease monitoring by liquid biopsy.

Methods

Single or serial plasma samples were obtained from 10 patients with OC (8 BRCA1 mutation carriers, 1 CHEK2 mutation carrier and 1 sporadic OC) and 7 women with BRCA1-associated breast cancer. Somatic mutation status for TP53 and some other genes was determined in archival tumour material by the next generation sequencing. Individual digital droplet PCR-based tests were developed for 16 identified TP53 mutations as well as for BRAF V600E substitution detected in the CHEK2-associated OC.

Results

All but one plasma samples obtained from OC patients before the treatment or at the time of disease progression were positive for TP53 mutations (6 samples from 4 patients). In contrast, plasma samples taken either at the time of clinical remission (1-2 years after completion of the treatment; 5 samples from 4 patients) or immediately after optimal cytoreductive surgery (1 sample) were negative for circulating tumour-specific mutations. All plasma samples from stage II-III breast cancer patients, including 4 taken at the diagnosis, 2 obtained after completion of the treatment and 7 collected within the period of the disease remission, were negative for tumour-specific TP53 alterations.

Conclusions

There is a good correlation between the presence of tumour-specific TP53 mutation in circulating DNA and the disease status in OC patients, therefore TP53 is a promising marker for clinical monitoring of ovarian cancer. TP53 mutation cannot be reliably detected by digital droplet PCR in the plasma of breast cancer patients, who have moderate disease burden.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.

Funding

Russian Science Foundation.

Disclosure

All authors have declared no conflicts of interest.

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