lunes, 5 de diciembre de 2016

Genetics of Colorectal Cancer (PDQ®)—Health Professional Version - National Cancer Institute

Genetics of Colorectal Cancer (PDQ®)—Health Professional Version - National Cancer Institute

National Cancer Institute

Genetics of Colorectal Cancer (PDQ®)–Health Professional Version


Changes to This Summary (12/01/2016)

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.
Revised text to state that in studies offering genetic counseling and testing to participants, often at no cost, those who declined counseling and testing reported a lower perceived risk of colorectal cancer (CRC); or fewer first-degree relatives affected with cancer; or were less likely to have had a previous colonoscopy, to have a college education, to have previously participated in cancer genetics research, or to be employed. Also added text about a small qualitative study of newly diagnosed CRC patients who met high-risk criteria for referral to cancer genetics risk assessment and counseling that identified potential reasons why patients may not seek counseling as recommended (cited Tomiak et al. as reference 12).
Revised text to state that the higher penetrance of APC pathogenic variants, earlier onset of disease, and the unambiguous phenotype also may influence the decision to undergo genetic testing for familial adenomatous polyposis, possibly because of a greater awareness of the disease and more experience with multiple family members being affected.
Added text about a study of 26 relatives of carriers of Lynch syndrome (LS) pathogenic variants from the Australian Colorectal Cancer Family Registry who had not undergone genetic counseling and/or genetic testing to learn about their risk status. Twenty-six relatives completed an interview to assess their perceived risk of developing CRC in the next 10 years and to self-report their colonoscopy status (cited Flander et al. as reference 58); although the mean perceived risk was high (30.5% compared to a mean predicted risk of 4% as calculated by MMRpro [cited Chen et al. as reference 59]), only 35% were considered adherent to colonoscopy recommendations, and the authors concluded that perceived risk alone may not be a sufficient predictor of colonoscopy use in relatives of carriers of LS pathogenic variants who have not undergone genetic counseling and/or testing.
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: December 1, 2016

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