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"Decoding hereditary breast cancer" benefits and questions from multigene panel testing
Chrystelle Colas1, Lisa Golmard1, Antoine de Pauw1
1Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
Breast (Edinburgh, Scotland)
|March 2, 2019
Summary
Multigene panel testing aids breast and ovarian cancer diagnosis by sequencing multiple genes. However, challenges with clinical validity, variant classification, and patient management require standardized guidelines for effective use.
Area of Science:
- Genetics
- Oncology
- Medical Diagnostics
Background:
- Multigene panel testing is increasingly used for hereditary breast and ovarian cancer (HBOC) predisposition.
- Over 200 multigene panels, including BRCA1 and BRCA2, are available from various laboratories.
Purpose of the Study:
- To review the clinical validity and utility of 26 commonly included genes in multigene panels.
- To identify challenges in the routine use of multigene panels for cancer predisposition diagnosis.
Main Methods:
- Systematic review of clinical validity and utility data for 26 genes frequently incorporated in multigene panels.
- Analysis of current challenges and limitations associated with multigene panel testing.
Main Results:
- Clinical validity and utility are not established for all genes included in multigene panels.
- Heterogeneity in tumor risk levels complicates routine application without defined management guidelines.
- Classification of variants of unknown significance (VUS) presents a significant challenge.
Conclusions:
- Standardized management guidelines and recommendations for testing relatives are crucial for effective routine use of multigene panels.
- Further research is needed to classify VUS and identify cancer risk modifiers for personalized risk assessment.
- Addressing complexity in information delivery, VUS reclassification, and patient support is essential for both clinicians and patients.