Cancer Genetics Overview (PDQ®)–Health Professional Version

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Changes to This Summary (06/30/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Clinical Sequencing

Added text to state that a genetic variant is an alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance; the term variant is increasingly being used in place of the term mutation. Also revised the definitions of germline variant, somatic variant, and actionable genetic information.

Added Table 1, Variant Classification for Pathogenicity.

Added text to state that the absence of a variant in a gene assessed as part of somatic testing does not rule out the presence of an inherited susceptibility. All patients whose personal and family histories are suggestive of hereditary cancer should consider germline testing regardless of their somatic results.

Genetic Resources

Revised Table 2, Clinical Genetics Information, to include ClinGen and ClinVar as resources.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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