bims-ovdlit Biomed News
on Ovarian cancer: early diagnosis, liquid biopsy and therapy
Issue of 2026–01–18
ten papers selected by
Lara Paracchini, Humanitas Research
  1. Evaluation of quantitative polymerase chain reaction for detecting BRCA1 or BRCA2 copy number loss in high-grade serous ovarian cancer.
  2. Advances in ovarian cancer screening and early detection: from biomarkers to multivariate Index Assays.
  3. European Society for Medical Oncology 2025 Highlights: Top Studies In Gynecologic Oncology.
  4. Comparative analysis of cell-free DNA fragmentation patterns in canines with sarcoma and tumor-free canines and humans.
  5. Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
  6. Cell-free DNA in 2030.
  7. The Lancet Commission on Ovarian Cancer: towards equity-driven reform.
  8. Circulating tumor DNA for prognostication and monitoring in patients with metastatic endometrial carcinoma treated with olaparib: validation in the GINECO-UTOLA trial.
  9. Hereditary ovarian cancer.
  10. Clinical manifestations of chromosome 19p13.11 duplication.
  1. Sci Rep. 2026 Jan 10.
    Evaluation of quantitative polymerase chain reaction for detecting BRCA1 or BRCA2 copy number loss in high-grade serous ovarian cancer.
    A J Oswald, R L Hollis, M Churchman, I Croy, A Ewing, J P Thomson, L J Stillie, E Merry, M Albertella, J V Forment, P Roxburgh, C A Semple, C S Herrington, C Gourley.
      
    Keywords:  BRCA1/2; Copy number loss; High grade serous ovarian cancer; Quantitative polymerase chain reaction
    DOI:  https://doi.org/10.1038/s41598-025-34516-z
  2. Expert Rev Mol Diagn. 2026 Jan 16.
    Advances in ovarian cancer screening and early detection: from biomarkers to multivariate Index Assays.
    Carlos Salomon, Melissa Razo-Azamar, Aleksandra Gentry-Maharaj, Gregory E Rice, Usha Menon.
       INTRODUCTION: Ovarian cancer remains one of the leading causes of cancer-related death in women, largely due to nonspecific symptoms and late-stage diagnosis. Improving outcomes through early detection, both earlier diagnosis of symptomatic women and population screening, has therefore become a global priority.
    CONTEXT: Existing diagnostic approaches including CA125 and transvaginal ultrasound (TVUS), lack sufficient specificity and sensitivity, and no screening strategy has yet reduced mortality. Multivariate Index Assays (MIAs), which combine multiple biomarker results into a single risk score, have emerged as a promising approach for differential diagnosis of adnexal masses, early detection and screening.
    AREAS COVERED: This review summarizes current literature and trial data on MIAs in ovarian cancer detection. It outlines their potential advantages over single biomarkers, opportunities to improve patient outcomes, and their possible role in personalized medicine. Finally, it highlights that successful integration of MIAs into clinical practice will require well-designed prospective studies to validate their clinical utility.
    EXPERT OPINION/COMMENTARY: It is essential to clearly distinguish between diagnostic and screening tests in the context of ovarian cancer, as conflating these terms can cause confusion in both clinical and research settings. Currently, no ovarian cancer screening tests are approved, and each approach (screening or diagnostic) requires distinct performance criteria, regulatory pathways and target populations to ensure appropriate clinical application.
    Keywords:  Biomarkers; early detection; multivariate index assays; ovarian cancer
    DOI:  https://doi.org/10.1080/14737159.2025.2608820
  3. Int J Gynecol Cancer. 2025 Dec 18. pii: S1048-891X(25)02004-3. [Epub ahead of print]36(2): 102880
    European Society for Medical Oncology 2025 Highlights: Top Studies In Gynecologic Oncology.
    Mariana Carvalho Gouveia, Letícia Vecchi Leis, Jéssica Monteiro Vasconcellos, Leandro Apolinario da Silva, Daniele Assad Suzuki, Mariana Scaranti.
      "ESMO 2025 Highlights: Top Studies in Gynecologic Oncology" provides an expert summary of the most impactful research presented at the European Society for Medical Oncology (ESMO) Congress 2025, held in Berlin, Germany, from October 17 to 21, 2025. This 5-day congress brought together over 37,000 participants from 174 countries and territories, featuring 661 speakers, 213 sessions, and 2927 abstracts, including 112 late-breaking abstracts, 170 proffered papers, 214 mini-orals, and 2543 posters (of which 649 were e-posters). In the field of gynecologic oncology, 145 posters, 7 mini orals, and 5 proffered paper presentations covered key topics such as immunotherapy, targeted therapies, maintenance strategies, surgical innovation, and real-world evidence. This review highlights the studies with the greatest potential to influence clinical practice and shape future research in ovarian, endometrial, cervical, and rare gynecologic cancers.
    Keywords:  Cervical Cancer; ESMO 2025; Endometrial Cancer; Gynecologic Cancer; Ovarian Cancer
    DOI:  https://doi.org/10.1016/j.ijgc.2025.102880
  4. Cancer Res Commun. 2026 Jan 16.
    Comparative analysis of cell-free DNA fragmentation patterns in canines with sarcoma and tumor-free canines and humans.
    Patricia Filippsen Favaro, Yinghua Wang, Bradon R McDonald, Tammy Xiong Wang, Samanyu Jadhav, Han-Yun Hannah Cheng, Clayton T Marcinak, Xuan Pan, Muhammed Murtaza.
      Plasma cell-free DNA (cfDNA) analysis holds potential to improve detection of naturally occurring cancer in dogs, which serve as both important model organisms for human cancer and companion animals. However, there is limited comparative data on characteristics of canine and human cfDNA. We characterized cfDNA fragmentation in 254 plasma samples from 54 healthy dogs and 54 dogs with naturally occurring sarcomas, and compared them to 35 samples of human cfDNA. Using electrophoresis, whole genome sequencing with both short and long reads, and multiplexed quantitative PCR, we assessed both fragment size distribution and fragment end sequences. We then trained a random forest classifier to distinguish healthy dogs from those with sarcomas based on cfDNA fragmentation features. Canine cfDNA fragment size distributions showed a striking deviation from humans, including a median of only 39% of fragments between 50-700 base pairs versus 84% in human samples. Fragment end nucleotides were more random in dogs than in humans at multiple size ranges. Similar to human cancer patients, dogs with sarcomas had detectable copy number changes and characteristically shorter cfDNA fragments relative to healthy dogs, enabling classification of cancer samples with 91% accuracy. Our results demonstrate key differences in cfDNA fragmentation between dogs and humans, and highlight the potential for comparative translational research to advance blood-based early cancer detection in both species.
    DOI:  https://doi.org/10.1158/2767-9764.CRC-25-0373
  5. Arch Gynecol Obstet. 2026 Jan 13. 313(1): 38
    Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
    Annika Krückel, Julia Gocke, Manuel Hörner, Katharina Keller, Carolin Müller, Lena Brückner, Felix Heindl, Carolin C Hack, Matthias W Beckmann, Niklas Amann.
      A relevant proportion of malignancies predominantly or exclusively affecting women, including breast and gynecologic cancers, is attributable to hereditary tumor syndromes, profoundly impacting cancer risk, prognosis, and therapeutic management. Today, the routine use of comprehensive germline panels has shifted the focus from solely pathogenic BRCA1/2 variants to include numerous pathogenic variants of other high- and moderate-risk genes. A broad spectrum of genetic alterations has been identified as causative for Hereditary Breast and Ovarian Cancer syndrome (HBOC), encompassing not only BRCA1 and BRCA2, but also PALB2, ATM, BARD1, CHEK2, BRIP1, RAD51C, and RAD51D. Beyond HBOC, numerous additional hereditary tumor syndromes are of significance in senologic and/or gynecologic oncology, including Li-Fraumeni syndrome, Lynch syndrome, DICER1 syndrome, Hereditary Diffuse Gastric Cancer, Neurofibromatosis type 1, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, Tuberous Sclerosis, and pathogenic variants in NBN and SMARCA4. Affected individuals are offered specialized surveillance to enable early detection or even prevention of cancer. In addition to regular clinical examinations and imaging, preventive strategies may include risk-reducing surgery. Pathogenic germline variants also influence therapeutic management of cancer patients. For specific indications, targeted therapies are available, for example PARP [poly (ADP-ribose) polymerase] inhibitors for pathogenic BRCA variant carriers across multiple tumor entities. Optimal management requires interdisciplinary coordination, encompassing genetic counseling, early detection, and risk-reducing strategies within specialized centers. This review provides a comprehensive overview of hereditary tumor syndromes predisposing to breast and gynecologic malignancies, with a focus on genetic basis, associated cancer risks, and implications for clinical management. By delineating these syndromes, it aims to assist clinicians in recognizing hereditary cancer predisposition and in guiding affected individuals within routine senologic and gynecologic practice.
    Keywords:  Breast cancer; Cervical cancer; Endometrial cancer; Gynecologic malignancies; Hereditary breast and ovarian cancer; Ovarian cancer; Tumor syndromes
    DOI:  https://doi.org/10.1007/s00404-025-08270-6
  6. Med. 2026 Jan 09. pii: S2666-6340(25)00390-3. [Epub ahead of print]7(1): 100963
    Cell-free DNA in 2030.
    W H Adrian Tsui, Y M Dennis Lo.
      The analysis of cell-free DNA (cfDNA) has emerged as a cornerstone of minimally invasive liquid biopsies. We summarize the key advancements of the last five years-deepening insights into fundamental cfDNA biology, innovations in wet- and dry-lab approaches, and the amassment of clinical outcome data-and discuss prospects of this field for the coming half-decade.
    DOI:  https://doi.org/10.1016/j.medj.2025.100963
  7. Lancet. 2026 Jan 08. pii: S0140-6736(25)02463-8. [Epub ahead of print]
    The Lancet Commission on Ovarian Cancer: towards equity-driven reform.
    Lancet Commission on Ovarian Cancer
      
    DOI:  https://doi.org/10.1016/S0140-6736(25)02463-8
  8. Clin Cancer Res. 2026 Jan 15.
    Circulating tumor DNA for prognostication and monitoring in patients with metastatic endometrial carcinoma treated with olaparib: validation in the GINECO-UTOLA trial.
    Guillaume Beinse, Valerie Taly, Alexandra Leary, Aurelia Baures, Isabelle Ray-Coquard, Benoît You, Manuel Rodrigues, Laurence Gladieff, Sophie Abadie-Lacourtoisie, Leïla Bengrine-Lefevre, Pierre-Emmanuel Brachet, Coriolan Lebreton, Guillaume Meynard, Pierre Fournel, Jean-Sébastien Frenel, Frédéric Selle, Rémy Largillier, Cyril Foa, Corina Cornila, Emilie Kaczmarek, Anne-Claire Hardy-Bessard, Véronique D'Hondt, Isabelle Cojean Zelek, Sophie Roche, Delphine Duliege, Marie Ange Mouret-Reynier, Patrick Bouchaert, Pierre Laurent-Puig, Florence Joly, Jérôme Alexandre.
       BACKGROUND: Circulating tumor DNA (ctDNA) may offer a non-invasive means to evaluate tumor response and to anticipate disease dynamics before radiological changes in advanced endometrial carcinoma (EC).
    METHODS: This ancillary analysis included patients from the multicenter, randomized, phase II, GINECO-UTOLA trial (NCT03745950), evaluating olaparib/placebo as maintenance after first-line platinum-based chemotherapy. Plasma samples were collected at screening after chemotherapy (baseline), 3 months (M3), and progression. ctDNA detection was assessed by a validated methylation-based digital-droplet PCR (MethddPCR) assay targeting DNA positions universally methylated in EC.
    RESULTS: Among 130 evaluable patients, ctDNA was detected in 25/129 (19%, 1 technical fail) at baseline, 15/80 (19%) at M3, and 33/52 (63%) at progression. Baseline ctDNA positivity was independently associated with poorer progression-free survival (median 1.81 vs 7.39 months; adjusted-HR=5.33 [3.17-8.97]) and overall survival (OS) (10.3 vs 24.7 months; adjusted-HR=3.98 [2.28-6.91]) (adjusted for age, stage IV at diagnosis, p53abn subgroup, and residual measurable lesions after chemotherapy). Patients with baseline ctDNA had median OS of 9.36 months under olaparib versus 19.6 months under placebo (log-rank p=0.05). Patients with rising ctDNA at M3 had median PFS of 1.67 months, versus 9.64 months without, and median OS of 18.8 versus 25.8 months. ctDNA rising was predictive of poor post-progression OS under olaparib but not under placebo (interaction test, p<0.001).
    CONCLUSION: MethddPCR-ctDNA is an independent prognostic biomarker for OS in advanced/metastatic EC. MethddPCR-ctDNA may identify patients unlikely to benefit from PARP inhibition, guide therapeutic decisions, and should be further evaluated as a new stratification parameter in future endometrial carcinoma trials.
    DOI:  https://doi.org/10.1158/1078-0432.CCR-25-2959
  9. Discov Oncol. 2026 Jan 15.
    Hereditary ovarian cancer.
    Weronika Anna Jurgiel, Barbara Panasiuk, Renata Posmyk.
      Ovarian cancer ranks sixth as the most common cancer and fifth as the most deadly malignancy among women worldwide. In addition, it places third among the most common gynecological cancers. Which proves that it is a significant medical problem worldwide. Most ovarian cancers (75-90%) are sporadic and arise from the accumulation of somatic mutations that are confined to the genome of the tumor tissue. However, about 10-25% of all ovarian cancer cases are hereditary. Most hereditary cases of ovarian cancer are associated with one of three genetic syndromes: hereditary breast and ovarian cancer syndrome (HBOC), hereditary ovarian site-specific cancer syndrome (HOC-ss) and hereditary non-polyposis-related colorectal cancer syndrome (HNPCC). Mutations in the BRCA1/BRCA2 underlie the majority of hereditary ovarian cancers and belong to the group of genes with high penetrance which means that carriers of their pathogenic variants have a high risk of developing ovarian cancer. Mutations in these genes are inherited in an autosomal dominant disorder, which means that inheriting a single copy of the mutated gene significantly increases the risk of developing this cancer. In contrast, about 5-10% of patients are carriers of pathogenic variants in other genes with moderate or low penetrance, such as ATM, CHEK2, PALB2 or BARD1. More than 75% of all ovarian cancers are detected at FIGO stages III and IV, in which the overall 5-year survival does not exceed 35%. Ovarian cancer is a heterogeneous disease that understanding the hereditary basis of this disease is crucial for its effective diagnosis, management and prevention. This review article aims to discuss the genetic basis of hereditary ovarian cancer, epidemiology, etiology and treatment options.
    Keywords:   BRCA1 and BRCA2 genes; Founder mutations; Genetic susceptibility; Genetic testing; Hereditary ovarian cancer; Risk factors
    DOI:  https://doi.org/10.1007/s12672-026-04418-1
  10. J Med Genet. 2026 Jan 16. pii: jmg-2025-111154. [Epub ahead of print]
    Clinical manifestations of chromosome 19p13.11 duplication.
    Dibyendu Dutta, Megan Keeney, Nicole Matthews, Kristina Peron, Abdulrazak Alali, Ariel F Martinez, Bobbi McGivern, Claire Boring, Scott C Smith, Ria Garg.
       BACKGROUND: Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of chromosome 19 have been associated with various clinical conditions, duplications remain poorly characterised. Here, we report three cases involving 19p13.11 duplication and describe the associated clinical phenotype.
    METHODS: We describe three unrelated individuals with microduplications at 19p13.11 identified either via clinical whole-exome sequencing or chromosomal microarray. The probands underwent detailed clinical genetic evaluations, and CNVs were confirmed with parental testing when available. Sequencing reads were aligned to the GRCh37/hg19 human genome build.
    RESULTS: All three probands exhibited neurodevelopmental delays, attention-deficit/hyperactivity disorder and speech delay. Additional overlapping features included joint hypermobility, short stature and craniofacial anomalies. Patient-specific manifestations included haematological abnormalities, musculoskeletal asymmetries and cardiac findings. Duplicated regions spanned 1.2-1.6 Mb and encompassed 41-49 protein-coding genes. Patients 2 and 3 have CNVs that overlap 76% with those of Patient 1. Several genes have predicted high triplosensitivity scores and are associated with autosomal dominant neurodevelopmental and skeletal disorders. Patient 1, with the largest duplication, had more extensive systemic involvement, likely reflecting the broader gene dosage effect.
    CONCLUSION: This is the first comprehensive clinical and molecular characterisation of 19p13.11 duplications, suggesting a recurring multisystem phenotype driven by gene dosage sensitivity. These findings support the inclusion of 19p13.11 duplications in diagnostic evaluations for neurodevelopmental and multisystem disorders.
    Keywords:  Genetics, Medical; Human Genetics; Inborn Genetic Diseases
    DOI:  https://doi.org/10.1136/jmg-2025-111154
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