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Cancer Genetics Overview (PDQ®)

Changes to This Summary (02/25/2015)

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.

Methods of Genetic Analysis and Gene Discovery

Revised text to state that to date, hundreds of cancer-risk variants have been identified by well-powered genome-wide association studies and validated in independent cohorts (cited Chang et al. as reference 15).

Clinical Sequencing

Revised text to state that many tumor-based sequencing approaches use germline DNA sequences as a reference to discriminate between DNA changes only within the tumor and those that are potentially inherited.

Added text about the complexities and implications of reporting incidental and secondary germline findings (cited Parsons et al. as reference 12).

Genetic Resources

Revised Table 10, Risk Assessment Information, to include text about the Breast Cancer Genetics Referral Screening Tool (cited 2009 Bellcross et al. and 2010 Bellcross as references 1 and 2, respectively).

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.

  • Updated: February 25, 2015