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Who should be sent for genetic testing in hereditary colorectal cancer syndromes?
J Clin Oncol 2007; 25(23):3534-42JC

Abstract

Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.

Authors+Show Affiliations

Department of Preventive Medicine, Creighton University School of Medicine, Omaha, NE 68178, USA. htlynch@creighton.edu

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17687158

Citation

Lynch, Henry T., et al. "Who Should Be Sent for Genetic Testing in Hereditary Colorectal Cancer Syndromes?" Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, vol. 25, no. 23, 2007, pp. 3534-42.
Lynch HT, Boland CR, Rodriguez-Bigas MA, et al. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol. 2007;25(23):3534-42.
Lynch, H. T., Boland, C. R., Rodriguez-Bigas, M. A., Amos, C., Lynch, J. F., & Lynch, P. M. (2007). Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 25(23), pp. 3534-42.
Lynch HT, et al. Who Should Be Sent for Genetic Testing in Hereditary Colorectal Cancer Syndromes. J Clin Oncol. 2007 Aug 10;25(23):3534-42. PubMed PMID: 17687158.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Who should be sent for genetic testing in hereditary colorectal cancer syndromes? AU - Lynch,Henry T, AU - Boland,C Richard, AU - Rodriguez-Bigas,Miguel A, AU - Amos,Christopher, AU - Lynch,Jane F, AU - Lynch,Patrick M, PY - 2007/8/10/pubmed PY - 2007/8/31/medline PY - 2007/8/10/entrez SP - 3534 EP - 42 JF - Journal of clinical oncology : official journal of the American Society of Clinical Oncology JO - J. Clin. Oncol. VL - 25 IS - 23 N2 - Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic. SN - 1527-7755 UR - https://www.unboundmedicine.com/medline/citation/17687158/Who_should_be_sent_for_genetic_testing_in_hereditary_colorectal_cancer_syndromes L2 - http://ascopubs.org/doi/full/10.1200/JCO.2006.10.3119?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -