ArticleJournal of the National Cancer Institute2020
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.
Article in Journal of the National Cancer Institute, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 3 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 3 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.European journal of human genetics : EJHG · 2024Guideline
- Contraceptives and cancer risks in BRCA1/2 pathogenic variant carriers: a systematic review and meta-analysis.Human reproduction update · 2023Pooled it
- Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis.Gynecologic oncology · 2021Pooled it
- Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.Journal of the National Cancer Institute · 2021Trial
- Opportunities to improve detection of genetic predisposition for ovarian cancer applying the Tumor-First workflow.Familial cancer · 2026Article
- Exploring the somatic mutational landscape of ovarian cancer in Estonia.Acta oncologica (Stockholm, Sweden) · 2026Article
- IdentifiHR predicts homologous recombination deficiency in high-grade serous ovarian carcinoma using gene expression.Communications medicine · 2026Article
- Implementation of a stepwise process for somatic testing in patients with a new diagnosis of germline negative epithelial ovarian cancer.Gynecologic oncology reports · 2025Article
- Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.Health science reports · 2025Article
- Nationwide implementation and evaluation of the Tumor-First workflow for genetic testing in ovarian carcinoma.International journal of cancer · 2025Article
- Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action.Current oncology (Toronto, Ont.) · 2025Article
- Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data.Familial cancer · 2025Article
- Differential Receipt of Genetic Services Among Patients With Gynecologic Cancer and Their Relatives: A Review of Challenges to Health Equity.Clinical obstetrics and gynecology · 2024Review
- Optimizing the detection of hereditary predisposition in women with epithelial ovarian cancer: nationwide implementation of the Tumor-First workflow.Familial cancer · 2024Review
- Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions.Hereditary cancer in clinical practice · 2024Article
- Long-Term Survival in BRCA1 Mutant Advanced Ovarian Cancer: Unveiling the Impact of Olaparib.Diagnostics (Basel, Switzerland) · 2024Article
- A novel defined programmed cell death related gene signature for predicting the prognosis of serous ovarian cancer.Journal of ovarian research · 2024Article
- Article
- SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP).Virchows Archiv : an international journal of pathology · 2023Review
- International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023Article
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWomen with epithelial ovarian cancer (OC) have a higher chance to benefit from poly (ADP-ribose) polymerase inhibitor (PARPi) therapy if their tumor has a somatic or hereditary BRCA1/2 pathogenic variant. Current guidelines advise BRCA1/2 genetic predisposition testing for all OC patients, though this does not detect somatic variants. We assessed the feasibility of a workflow for universal tumor DNA BRCA1/2 testing of all newly diagnosed OC patients as a prescreen for PARPi treatment and cancer predisposition testing.
methodsFormalin-fixed paraffin-embedded tissue was obtained from OC patients in seven hospitals immediately after diagnosis or primary surgery. DNA was extracted, and universal tumor BRCA1/2 testing was then performed in a single site. Diagnostic yield, uptake, referral rates for genetic predisposition testing, and experiences of patients and gynecologists were evaluated.
resultsTumor BRCA1/2 testing was performed for 315 (77.6%) of the 406 eligible OC samples, of which 305 (96.8%) were successful. In 51 of these patients, pathogenic variants were detected (16.7%). Most patients (88.2%) went on to have a genetic predisposition test. BRCA1/2 pathogenic variants were shown to be hereditary in 56.8% and somatic in 43.2% of patients. Participating gynecologists and patients were overwhelmingly positive about the workflow.
conclusionsUniversal tumor BRCA1/2 testing in all newly diagnosed OC patients is feasible, effective, and appreciated by patients and gynecologists. Because many variants cannot be detected in DNA from blood, testing tumor DNA as the first step can double the identification rate of patients who stand to benefit most from PARP inhibitors.
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