Cancer Genetics Overview (PDQ®)–Health Professional Version

SECTIONS

Changes to This Summary (05/23/2016)

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 the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues have published literature that addresses some of the controversy surrounding secondary findings and provides guidance and recommendations for their use; however, controversy continues about when and what results to provide to patients and their health care providers (cited Richards et al. and the Presidential Commission for the Study of Bioethical Issues as references 6 and 7, respectively).

Added text to state that ACMG has now adopted secondary findingsrather than incidental findings as standard nomenclature.

Added text about a study that estimated the prevalence of germline variants from patients undergoing tumor sequencing with matched, normal DNA sequencing and reported that cancer susceptibility genes were identified in 198 of 1,566 individuals; only 81 of these 198 individuals had mutations in cancer susceptibility genes concordant with their tumor type (cited Schrader et al. as reference 15).

Added text about how sequencing tumors may lead to the identification of hereditary pathogenic variants; findings such as a founder mutation in a well-characterized cancer susceptibility gene, a hypermutated tumor phenotype, clinical characteristics that fit with a particular genetic predisposition, and a high variant allele fraction may be signs of a germline mutation and could signify a need to refer a patient for genetic counseling and germline testing (cited Raymond et al. as reference 16).

Genetic Resources

Genetics text about the Genetics Toolkit (American Society of Clinical Oncology) to Table 7, Health Professional Practice and Genetic Education Information.

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.

< Previous section
Genetic Resources

Next section >
About This PDQ Summary