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January 27, 2020Journal of Clinical Oncology387 citationsOpen Access

Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline

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PKPanagiotis A. KonstantinopoulosBNBarbara M. NorquistCLChristina Lacchetti

Key Points

  • Provide evidence-based clinical recommendations on germline and somatic tumor testing for individuals diagnosed with epithelial ovarian cancer.
  • American Society of Clinical Oncology (ASCO) expert panel developed clinical practice recommendations based on genetic testing evidence.
  • Evaluated germline and somatic testing algorithms for BRCA1/2 variants, mismatch repair deficiency (dMMR), and other susceptibility genes across histologic subtypes.
  • Recommends germline testing for BRCA1/2 and susceptibility genes for all patients at diagnosis, followed by somatic tumor testing if germline results are negative.
  • Recommends somatic testing for mismatch repair deficiency (dMMR) in clear cell, endometrioid, and mucinous ovarian cancer subtypes to direct FDA-approved therapies.
  • Recommends genetic risk evaluation, counseling, and cascade testing for first- and second-degree relatives of patients with identified pathogenic germline variants.

Abstract

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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Cite This Study

Konstantinopoulos et al. (2020) studied this question.

synapsesocial.com/papers/69d73537779571b57e48f4ebhttps://doi.org/10.1200/jco.19.02960
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