Ovarian Cancer

Synonyms: -

Material:

FFPE tissue sections

TAT:

varies depending on the analysis

Method:

NGS

Overview

In 2024, ovarian cancer accounted for an estimated 330,731 new cases worldwide, ranking as the 18th most commonly diagnosed cancer globally. These estimates cover different malignant neoplasms assigned to the ovary. Five principal ovarian carcinoma histotypes are recognised: high-grade serous, low-grade serous, mucinous, endometrioid, and clear cell carcinoma. These histotypes are biologically distinct and differ in their characteristic molecular alterations, hereditary associations, prognosis, and potential therapeutic vulnerabilities. Accurate histological classification remains fundamental, while molecular biomarker testing provides additional information for risk assessment and treatment selection.

Clinical background and relevance

Following pathological confirmation of ovarian, fallopian tube, or primary peritoneal cancer, patients should undergo genetic risk evaluation and appropriate germline and somatic testing if this has not previously been completed. Tumour-based testing does not replace germline testing, and pathogenic or likely pathogenic variants detected in tumour tissue may require confirmatory germline analysis and genetic counselling. In the upfront setting, molecular testing should at minimum enable assessment of BRCA1 and BRCA2 status and, in patients without a germline BRCA1/2 pathogenic or likely pathogenic variant, homologous recombination status. BRCA1/2 and HRD results contribute to the selection of first-line maintenance therapy, particularly in eligible patients with high-grade serous or grade 2 or 3 endometrioid carcinoma.

High-grade serous carcinoma is the most common ovarian carcinoma histotype. A clinically important subset harbours germline or somatic pathogenic or likely pathogenic alterations in BRCA1 or BRCA2, and a broader proportion shows homologous recombination deficiency. HRD status may provide information on the expected magnitude of benefit from PARP-inhibitor maintenance therapy in patients without a germline BRCA1/2 pathogenic or likely pathogenic variant.

Low-grade serous carcinoma is biologically distinct from high-grade serous carcinoma and frequently contains alterations activating the MAPK signalling pathway, including alterations in KRAS, BRAF, and NRAS. In recurrent disease, selected MAPK-pathway alterations can be therapeutically relevant.

Mismatch repair deficiency and microsatellite instability are uncommon in ovarian carcinoma overall but are enriched in endometrioid carcinoma. NCCN recommends MSI/MMR testing for all patients with endometrioid ovarian carcinoma. In recurrent or advanced disease, dMMR or MSI-H status may identify patients for whom tumour-agnostic immune-checkpoint therapy is an option. MSI analysis and MMR-protein immunohistochemistry are complementary approaches and should not be treated as synonymous tests.

Gene fusions involving NTRK1, NTRK2, or NTRK3 are rare in ovarian cancer but can identify patients who may benefit from tumour-agnostic TRK-inhibitor therapy. RET fusions are likewise uncommon, but their detection may support the use of RET-directed therapy in the recurrent setting.

For persistent or recurrent disease, broader tumour biomarker testing should be considered if it has not previously been performed. According to NCCN, such testing may include HER2, PD-L1, BRCA1/2, HRD, MSI, MMR, TMB, BRAF, KRAS, FRα/FOLR1, RET, and NTRK1/2/3, as clinically appropriate. Multigene-panel testing may be particularly valuable in less common ovarian cancers for which standard treatment options are limited.

Table 1: Clinically relevant biomarkers

Biomarker finding	Result to report	Potential clinical relevance
BRCA1/BRCA2 alteration	Pathogenic or likely pathogenic tumour variant in BRCA1 or BRCA2	May inform maintenance-therapy selection; may indicate the need for germline confirmation and genetic counselling
BRAF alteration	BRAF variant (V600E)	BRAF V600E can be therapeutically relevant in recurrent disease
Microsatellite instability	MSI-H, microsatellite stable, or indeterminate	MSI-H may indicate dMMR biology and eligibility for tumour-agnostic immunotherapy in the appropriate clinical setting
NTRK 1/2/3 fusion	Detected fusion	May identify eligibility for tumour-agnostic TRK-inhibitor therapy
RET fusion	Detected fusion	May identify eligibility for RET-directed therapy in recurrent disease

Available tests

The analyses listed below can be requested individually or as a combined molecular analysis. The selected test should be based on histotype, disease setting, previous biomarker results, available tissue, and the clinical question. The assays described here represent a focused set of biomarkers and do not replace comprehensive biomarker profiling when broader testing is clinically indicated.

Single-method analysis	Panel	Gene scope	Purpose
Sequencing	Panel00730	BRAF, BRCA1, BRCA2	Detection of somatic sequence variants in tumour tissue
Fusion analysis	Panel00728	NTRK1, NTRK2, NTRK3, RET	Detection of gene fusions in tumour tissue
Microsatellite instability (MSI) analysis	Panel00729	Microsatellite marker panel	Determination of tumour microsatellite instability (MSI) status

	Panel	Gene scope
Combined analysis	Panel00539	BRAF, BRCA1, BRCA2, NTRK1, NTRK2, NTRK3, RET, MSI assessment

Depending on the clinical setting, additional biomarkers not included in the focused panels may be required, including HER2, PD-L1, KRAS, and FRα/FOLR1. This additional analyses on tumour tissue are also available (see Panel 00617 – ).

Therapy

References

Ervik M, Laversanne M, Lam F, Colombet M, Ferlay J, Filho AM, Bray F. Global Cancer Observatory: Cancer Today (2024 estimates, version 1.0). Lyon: International Agency for Research on Cancer; 2026. Ovary fact sheet. Available from: , accessed 7 August 2026.
WHO Classification of Tumours Editorial Board. Female genital tumours. WHO Classification of Tumours, 5th ed., vol. 4. Lyon: International Agency for Research on Cancer; 2020. Available from:
Köbel M, Kang EY. The evolution of ovarian carcinoma subclassification. Cancers (Basel). 2022;14(2):416. PMID: . PMCID: PMC8774015.
Grafodatskaya D, O’Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, et al. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer. J Med Genet. 2022;59(8):727-736. PMID: . PMCID: PMC9340048.
Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, et al. The prevalence of mismatch repair deficiency in ovarian cancer: a systematic review and meta-analysis. Int J Cancer. 2022;151(9):1626-1639. PMID: . PMCID: PMC9539584.
O’Haire S, Franchini F, Kang YJ, Steinberg J, Canfell K, Desai J, et al. Systematic review of NTRK 1/2/3 fusion prevalence pan-cancer and across solid tumours. Sci Rep. 2023;13(1):4116. PMID: . PMCID: PMC10011574.
Parimi V, Tolba K, Danziger N, Kuang Z, Sun D, Lin DI, et al. Genomic landscape of 891 RET fusions detected across diverse solid tumor types. NPJ Precis Oncol. 2023;7(1):10. Supplementary Tables S1-S2. PMID: . PMCID: PMC9870857.
González-Martín A, Harter P, Leary A, Lorusso D, Miller RE, Pothuri B, et al. Newly diagnosed and relapsed epithelial ovarian cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023;34(10):833-848. PMID: .
González-Martín A, Ledermann JA, ESMO Guidelines Committee. ESMO Clinical Practice Guideline Express Update on the management of epithelial ovarian cancer. ESMO Open. 2026;11(2):106032. PMID: . PMCID: PMC12947637.
National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Ovarian Cancer/Fallopian Tube Cancer/Primary Peritoneal Cancer, version 4.2026. Available from: , accessed 7 August 2026.

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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