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Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy
V. Hlaváč, P. Holý, R. Václavíková, L. Rob, M. Hruda, M. Mrhalová, P. Černaj, J. Bouda, P. Souček
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
Directory of Open Access Journals
od 2018
Freely Accessible Science Journals
od 2018
PubMed Central
od 2018
ROAD: Directory of Open Access Scholarly Resources
od 2018
PubMed
36229065
DOI
10.26508/lsa.202201551
Knihovny.cz E-zdroje
- MeSH
- epiteliální ovariální karcinom farmakoterapie genetika MeSH
- individualizovaná medicína MeSH
- lidé MeSH
- nádory vaječníků * farmakoterapie genetika MeSH
- platina * farmakologie terapeutické užití MeSH
- sekvenování exomu MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Epithelial ovarian carcinoma (EOC) is highly fatal because of the risk of resistance to therapy and recurrence. We performed whole-exome sequencing of blood and tumor tissue pairs of 50 patients with surgically resected EOC. Compared with sensitive patients, platinum-resistant patients had a significantly higher somatic mutational rate in <i>TP53</i> and lower in several genes from the Hippo pathway. We confirmed the pivotal role of somatic mutations in homologous recombination repair genes in platinum sensitivity and favorable prognosis of EOC patients. Implementing the germline homologous recombination repair profile significantly improved the prediction. In addition, distinct mutational signatures, for example, SBS6, and overall mutational load, somatic mutations in <i>PABPC1</i>, <i>PABPC3</i>, and <i>TFAM</i> co-segregated with the resistance status, high-grade serous carcinoma subtype, or overall survival of patients. We generated germline and somatic genetic landscapes of prognostically different subgroups of EOC patients for further follow-up studies focused on utilizing the observed associations in precision oncology.
3rd Faculty of Medicine Charles University Prague Czech Republic
Biomedical Center Faculty of Medicine in Pilsen Charles University Pilsen Czech Republic
Toxicogenomics Unit National Institute of Public Health Prague Czech Republic
Citace poskytuje Crossref.org
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- $a Epithelial ovarian carcinoma (EOC) is highly fatal because of the risk of resistance to therapy and recurrence. We performed whole-exome sequencing of blood and tumor tissue pairs of 50 patients with surgically resected EOC. Compared with sensitive patients, platinum-resistant patients had a significantly higher somatic mutational rate in <i>TP53</i> and lower in several genes from the Hippo pathway. We confirmed the pivotal role of somatic mutations in homologous recombination repair genes in platinum sensitivity and favorable prognosis of EOC patients. Implementing the germline homologous recombination repair profile significantly improved the prediction. In addition, distinct mutational signatures, for example, SBS6, and overall mutational load, somatic mutations in <i>PABPC1</i>, <i>PABPC3</i>, and <i>TFAM</i> co-segregated with the resistance status, high-grade serous carcinoma subtype, or overall survival of patients. We generated germline and somatic genetic landscapes of prognostically different subgroups of EOC patients for further follow-up studies focused on utilizing the observed associations in precision oncology.
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