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Application of Panel-Based Tests for Inherited Risk of Cancer.

Authors :
Shah PD
Nathanson KL
Source :
Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2017 Aug 31; Vol. 18, pp. 201-227. Date of Electronic Publication: 2017 May 15.
Publication Year :
2017

Abstract

Next-generation or massively parallel sequencing has transformed the landscape of genetic testing for cancer susceptibility. Panel-based genetic tests evaluate multiple genes simultaneously and rapidly. Because these tests are frequently offered in clinical settings, understanding their clinical validity and utility is critical. When evaluating the inherited risk of breast and ovarian cancers, panel-based tests provide incremental benefit compared with BRCA1/2 genetic testing. For inherited risk of other cancers, such as colon cancer and pheochromocytoma-paraganglioma, the clinical utility and yield of panel-based testing are higher; in fact, simultaneous evaluation of multiple genes has been the historical standard for these diseases. Evaluating inherited risk with panel-based testing has recently entered clinical practice for prostate and pancreatic cancers, with potential therapeutic implications. The resulting variants of uncertain significance and mutations with unclear actionability pose challenges to service providers and patients, underscoring the importance of genetic counseling and data-sharing initiatives. This review explores the evolving merits, challenges, and nuances of panel-based testing for cancer susceptibility.

Details

Language :
English
ISSN :
1545-293X
Volume :
18
Database :
MEDLINE
Journal :
Annual review of genomics and human genetics
Publication Type :
Academic Journal
Accession number :
28504904
Full Text :
https://doi.org/10.1146/annurev-genom-091416-035305