Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline
Open accessAbstract
PURPOSE: To provide recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer based on available evidence and expert consensus. METHODS: A literature search and prospectively defined study selection criteria sought systematic reviews, meta-analyses, randomized controlled trials (RCTs), and comparative observational studies published from 2007 through 2019. Guideline recommendations were based on the review of the evidence. RESULTS: The systematic review identified 19 eligible studies. The evidence consisted of systematic reviews of observational data, consensus guidelines, and RCTs. RECOMMENDATIONS: All women diagnosed with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer susceptibility genes. In women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant, somatic tumor testing for BRCA1/2 pathogenic or likely pathogenic variants should be performed. Women with identified germline or somatic pathogenic or likely pathogenic variants in BRCA1/2 genes should be offered treatments that are US Food and Drug Administration (FDA) approved in the upfront and the recurrent setting. Women diagnosed with clear cell, endometrioid, or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). Women with identified dMMR should be offered FDA-approved treatment based on these results. Genetic evaluations should be conducted in conjunction with health care providers familiar with the diagnosis and management of hereditary cancer. First- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing. Clinical decision making should not be made based on a variant of uncertain significance. Women with epithelial ovarian cancer should have testing at the time of diagnosis.
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The complexity of current ASCO guidelines for germline and somatic testing in epithelial ovarian cancer and the rapidly evolving landscape of biomarker-driven therapy likely exceed what training data alone can capture.
“the complexity of current ASCO guidelines for germline and somatic testing in epithelial ovarian cancer [31] and the rapidly evolving landscape of biomarker-driven therapy likely exceed what training data alone can capture.”
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- Authors
- Konstantinopoulos, P. A., Norquist, B., Lacchetti, C., Armstrong, D., Grisham, R. N., Goodfellow, P. J., Kohn, E. C., Levine, D. A., Liu, J. F., Lu, K. H., Sparacio, D., & Annunziata, C. M.
- Affiliations
- Dana-Farber Cancer Institute (US)
- University of Washington (US)
- American Society of Clinical Oncology (US)
- Johns Hopkins University (US)
- Memorial Sloan Kettering Cancer Center (US)
- The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (US)
- National Cancer Institute (US)
- NYU Langone Health (US)
- The University of Texas MD Anderson Cancer Center (US)
- Patient Representative, Hightstown, NJ
- ORCID
- Venue
- Journal of Clinical Oncology
- Published
- 2020-04-10
- Volume
- 38
- Issue
- 11
- Pages
- 1222-1245
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- PMC
- PMC8842911
- OpenAlex
- W3001210504
- Cited by
- 381
- References
- 107
- Citations by year
- 2026: 46 · 2025: 58 · 2024: 52 · 2023: 69 · 2022: 71 · 2021: 56 · 2020: 28 · 2013: 1
- FWCI
- 7.98
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Clinical Oncology (publishedVersion, public-domain)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (ZIABC011584)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Reproductive Medicine › Ovarian cancer diagnosis and treatment
- Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
- Keywords
- epithelial ovarian cancer, germline genetic testing, BRCA1, BRCA2, hereditary cancer predisposition, mismatch repair deficiency, ovarian clear cell carcinoma, endometrioid ovarian cancer, mucinous ovarian carcinoma, variants of uncertain significance, genetic counseling, targeted therapy
- MeSH terms
- Carcinoma, Ovarian Epithelial, Female, Genetic Counseling, Genetic Testing, Humans, Ovarian Neoplasms, Randomized Controlled Trials as Topic, Practice Guidelines as Topic, Germ-Line Mutation, Genes, BRCA1, Genes, BRCA2, Health Status Disparities
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