Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.
Sandra WessmanBeatriz Bohorquez FuentesTherese TörngrenAnders KvistGeorgia KokarakiHanna MenkensElisabet HjerpeYthalo HugoTirzah Braz PettaÅke BorgJoseph W CarlsonPublished in: Cancers (2021)
Tumours from 274 women were sequenced, including high-grade serous carcinoma (n = 252), clear cell carcinoma (n = 4), carcinosarcoma (n = 9), endometrioid carcinoma (n = 3), undifferentiated carcinoma (n = 1), and mixed tumours (n = 5). Genomic profiling did not influence histologic diagnosis. Mutations were identified in TP53, BRCA1, BRCA2, as well as additional homologous recombination repair pathway genes BARD1, ATR, CHEK2, PALB2, RAD51D, RAD50, SLX4, FANCA, RAD51C, and RAD54L. In addition, mutations in PTEN and CDKN2A were identified. Several somatic mutations with implications for germline testing were identified, including RMI1, STK11, and CDH1. Germline testing identified 16 previously unknown BRCA1/2 carriers. Finally, 20 patients were treated with the PARP inhibitor olaparib based on the sequencing results.
Keyphrases
- dna repair
- high grade
- dna damage
- dna damage response
- low grade
- single cell
- breast cancer risk
- newly diagnosed
- end stage renal disease
- ejection fraction
- copy number
- genome wide
- cell proliferation
- polycystic ovary syndrome
- peritoneal dialysis
- prognostic factors
- oxidative stress
- endometrial cancer
- metabolic syndrome
- gene expression
- signaling pathway
- pregnant women
- patient reported
- transcription factor