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Hereditary breast and ovarian cancer testing in the Genomic Era

Hereditary breast and ovarian cancer testing in the Genomic Era
Hereditary breast and ovarian cancer testing in the Genomic Era
Advances in next-generation sequencing and the decreasing cost of technology have widened access to cancer genomic testing. This development has enabled a shift from iterative, single-gene testing based on the presenting cancer phenotype to more broad-based genomic tests, including targeted cancer susceptibility gene panels and exome sequencing with directed in silico analysis. The potential benefits of this approach include an increase in diagnostic yield and identification of actionable risk. Nevertheless, it remains difficult to determine the cancer risk associated with many breast or ovarian cancer susceptibility genes. This is especially true for those genes that confer a moderate risk with confidence intervals that may be wide, and factors other than a single genotype may influence risk estimates. Developing optimal clinical management guidelines is a challenge in this context. Furthermore, these challenges have resulted in some variation in the genes that are included on hereditary breast or ovarian cancer susceptibility gene panels.
2374-2437
Greville-Heygate, Stephanie L.
6c52ee71-f395-4db9-a736-cb4a1323954a
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Side, Lucy E.
f9e1faa2-2814-4c9e-8470-65d0f92ddcd6
Greville-Heygate, Stephanie L.
6c52ee71-f395-4db9-a736-cb4a1323954a
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Side, Lucy E.
f9e1faa2-2814-4c9e-8470-65d0f92ddcd6

Greville-Heygate, Stephanie L., Eccles, Diana M. and Side, Lucy E. (2018) Hereditary breast and ovarian cancer testing in the Genomic Era. JAMA Oncology. (doi:10.1001/jamaoncol.2018.3034).

Record type: Letter

Abstract

Advances in next-generation sequencing and the decreasing cost of technology have widened access to cancer genomic testing. This development has enabled a shift from iterative, single-gene testing based on the presenting cancer phenotype to more broad-based genomic tests, including targeted cancer susceptibility gene panels and exome sequencing with directed in silico analysis. The potential benefits of this approach include an increase in diagnostic yield and identification of actionable risk. Nevertheless, it remains difficult to determine the cancer risk associated with many breast or ovarian cancer susceptibility genes. This is especially true for those genes that confer a moderate risk with confidence intervals that may be wide, and factors other than a single genotype may influence risk estimates. Developing optimal clinical management guidelines is a challenge in this context. Furthermore, these challenges have resulted in some variation in the genes that are included on hereditary breast or ovarian cancer susceptibility gene panels.

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More information

e-pub ahead of print date: 16 August 2018

Identifiers

Local EPrints ID: 423547
URI: http://eprints.soton.ac.uk/id/eprint/423547
ISSN: 2374-2437
PURE UUID: 27428003-38e1-460f-8216-078ac2ec62c9
ORCID for Diana M. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 26 Sep 2018 16:30
Last modified: 10 Nov 2021 02:38

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Contributors

Author: Stephanie L. Greville-Heygate
Author: Diana M. Eccles ORCID iD
Author: Lucy E. Side

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