Who should be sent for genetic testing in hereditary colorectal cancer syndromes?

Henry T. Lynch, C. Richard Boland, Miguel A. Rodriguez-Bigas, Christopher Amos, Jane P. Lynch, Patrick M. Lynch

Research output: Contribution to journalReview article

79 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)3534-3542
Number of pages9
JournalJournal of Clinical Oncology
Volume25
Issue number23
DOIs
StatePublished - Aug 10 2007
Externally publishedYes

Fingerprint

Hereditary Neoplastic Syndromes
Genetic Testing
Hereditary Nonpolyposis Colorectal Neoplasms
Colorectal Neoplasms
Guidelines
Peutz-Jeghers Syndrome
Christianity
Physician's Role
Adenomatous Polyposis Coli
Germ-Line Mutation
Medical Genetics
Pigmentation
Molecular Biology
Referral and Consultation
DNA
Counselors

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Lynch, H. T., Boland, C. R., Rodriguez-Bigas, M. A., Amos, C., Lynch, J. P., & Lynch, P. M. (2007). Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Journal of Clinical Oncology, 25(23), 3534-3542. https://doi.org/10.1200/JCO.2006.10.3119

Who should be sent for genetic testing in hereditary colorectal cancer syndromes? / Lynch, Henry T.; Boland, C. Richard; Rodriguez-Bigas, Miguel A.; Amos, Christopher; Lynch, Jane P.; Lynch, Patrick M.

In: Journal of Clinical Oncology, Vol. 25, No. 23, 10.08.2007, p. 3534-3542.

Research output: Contribution to journalReview article

Lynch, HT, Boland, CR, Rodriguez-Bigas, MA, Amos, C, Lynch, JP & Lynch, PM 2007, 'Who should be sent for genetic testing in hereditary colorectal cancer syndromes?', Journal of Clinical Oncology, vol. 25, no. 23, pp. 3534-3542. https://doi.org/10.1200/JCO.2006.10.3119
Lynch, Henry T. ; Boland, C. Richard ; Rodriguez-Bigas, Miguel A. ; Amos, Christopher ; Lynch, Jane P. ; Lynch, Patrick M. / Who should be sent for genetic testing in hereditary colorectal cancer syndromes?. In: Journal of Clinical Oncology. 2007 ; Vol. 25, No. 23. pp. 3534-3542.
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