Case Study – TomaLab Advanced Biomedical Assays

Ovarian cancer, homologous recombination deficiency and PARP inhibitors



Research Challenge

Improve clinical decision-making in ovarian cancer


SOPHiA DDM™ Dx Homologous Recombination Deficiency (HRD) Solution

Ovarian cancer, homologous recombination deficiency and PARP inhibitors   

Ovarian cancer is one of the most prevalent cancers in women and causes more deaths than any other cancer of the female reproductive system. A recent study 1, reported 313.959 new cases of ovarian cancer and 207.252 deaths from ovarian cancer in 185 countries globally in 20201. The rapid evolution of modern technology, along with the advancements in molecular genetics contributed significantly to defining new prognostic, diagnostic and therapeutic approaches in oncology. 

In recent years, landmark studies have shown the paramount importance of analyzing the mutational status of BRCA1 and BRCA2 genes to predict the potential effectiveness of PARP inhibitors (PARPi) therapy in women afflicted with ovarian cancer2

PAOLA-1 clinical trial published in 2019 3, showed that Homologous Recombination Deficiency (HRD) patients with genomic instability (GI) due to genetic alterations in the Homologous Recombination Repair (HRR) system presented a longer survival rate when treated with PARP inhibitors in combination with an anti-angiogenic agent (such as bevacizumab) 3

“In pursuit of advancing the therapeutic options for women battling with ovarian cancer, TomaLab decided to implement the SOPHiA DDMTM Dx Homologous Recombination Deficiency (HRD) Solution in our clinical routine” said Dr. Elena Repetti, Chief of Medical Genetics of TomaLab. 

The Clinical case:

A 66-year-old woman presented with high-grade serous ovarian carcinoma (FIGO stage IIIC) had been previously tested for BRCA1 and BRCA2 genes, both by germline and somatic genetic testing, and had been found to be “wild-type”. 

In July 2022, this patient underwent somatic HRD assessment, using SOPHiA GENETICS’s SOPHiA DDMTM Dx Homologous Recombination Deficiency (HRD) Solution, thereby finding her afflicted with genomic instability (GI). Her HRD status allowed clinicians to make timely and informed clinical decisions, considerably increasing the probability of better health outcomes and survival for this patient.  

“This is only one of the multiple cases for which we observed that SOPHiA GENETICS’s platform enabled comprehensive and enhanced analysis results, and, therefore, improved clinical outcomes for cancer patients. “, Dr.Repetti concludes. 

You can watch our full spotlight session with Dr. Repetti here. 


    1. Huang J, Chan WC, Ngai CH, Lok V, Zhang L, Lucero-Prisno DE 3rd, Xu W, Zheng ZJ, Elcarte E, Withers M, Wong MCS, On Behalf Of Ncd Global Health Research Group Of Association Of Pacific Rim Universities Apru. Worldwide Burden, Risk Factors, and Temporal Trends of Ovarian Cancer: A Global Study. Cancers (Basel). 2022 Apr 29;14(9):2230. doi: 10.3390/cancers14092230. PMID: 35565359; PMCID: PMC9102475. 
    1. Hockings H, Miller RE. The role of PARP inhibitor combination therapy in ovarian cancer. Ther Adv Med Oncol. 2023 May 16;15:17588359231173183. doi: 10.1177/17588359231173183. PMID: 37215065; PMCID: PMC10196552. 
    1.  Ray-Coquard, Isabelle,Pautier, Patricia, Pignata, Sandro,Pérol, DavidGonzález-Martín, AntonioBerger, ReginaFujiwara, Keiichi Vergote, IgnaceColombo, NicolettaMäenpää, Johanna Selle, FrédéricSehouli, Jalid Lorusso, DomenicaGuerra Alía, Eva M.Reinthaller, AlexanderNagao, ShojiLefeuvre-Plesse, ClaudiaCanzler, UlrichScambia, GiovanniLortholary, AlainMarmé, FrederikCombe, Pierrede Gregorio, Nikolaus Rodrigues, Manuel Buderath, PaulDubot, Coraline, Burges, Alexander, You, Benoît, Pujade-Lauraine, Eric, Harter, Philipp, Olaparib plus Bevacizumab as First-Line Maintenance in Ovarian Cancer, Journal Article2019, New England Journal of Medicine,416-2428381, 2510.1056/NEJMoa1911361 [doi], 31851799, England Journal of Medicine December 19, 2019 381(25):2416 
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