Increasing Lynch syndrome identification through establishment of a hereditary colorectal cancer registry

Duveen Sturgeon, Tonna McCutcheon, Timothy M. Geiger, Roberta L. Muldoon, Alan Joseph Herline, Paul E. Wise

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

BACKGROUND: Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing. Objective: To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome. DESIGN: A retrospective review and cohort comparison of both prospectively collected and retrospective data. Setting: The colorectal surgical clinic at Vanderbilt University Medical Center. Patients: A ll newly diagnosed colorectal cancer patients seen between January 2006 and October 2010. Main Outcom e Measures: To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period"). Results: During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006. Limitations: This was a single-institution, retrospective review. Conclus ion: Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.

Original languageEnglish (US)
Pages (from-to)308-314
Number of pages7
JournalDiseases of the Colon and Rectum
Volume56
Issue number3
DOIs
StatePublished - Mar 1 2013

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Hereditary Nonpolyposis Colorectal Neoplasms
Registries
Colorectal Neoplasms
Genetic Testing
Genetic Counseling

Keywords

  • Colorectal cancer
  • Hereditary nonpolyposis colorectal cancer
  • Lynch syndrome

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Increasing Lynch syndrome identification through establishment of a hereditary colorectal cancer registry. / Sturgeon, Duveen; McCutcheon, Tonna; Geiger, Timothy M.; Muldoon, Roberta L.; Herline, Alan Joseph; Wise, Paul E.

In: Diseases of the Colon and Rectum, Vol. 56, No. 3, 01.03.2013, p. 308-314.

Research output: Contribution to journalArticle

Sturgeon, Duveen ; McCutcheon, Tonna ; Geiger, Timothy M. ; Muldoon, Roberta L. ; Herline, Alan Joseph ; Wise, Paul E. / Increasing Lynch syndrome identification through establishment of a hereditary colorectal cancer registry. In: Diseases of the Colon and Rectum. 2013 ; Vol. 56, No. 3. pp. 308-314.
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AU - McCutcheon, Tonna

AU - Geiger, Timothy M.

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AU - Wise, Paul E.

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N2 - BACKGROUND: Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing. Objective: To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome. DESIGN: A retrospective review and cohort comparison of both prospectively collected and retrospective data. Setting: The colorectal surgical clinic at Vanderbilt University Medical Center. Patients: A ll newly diagnosed colorectal cancer patients seen between January 2006 and October 2010. Main Outcom e Measures: To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period"). Results: During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006. Limitations: This was a single-institution, retrospective review. Conclus ion: Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.

AB - BACKGROUND: Lynch syndrome contributes to 5% of all colorectal cancers. Patients seen in most surgical clinics have limited or no family histories documented and are rarely assessed for hereditary syndromes. In 2007 a clinic-based hereditary colorectal cancer registry was established to screen for Lynch syndrome and facilitate genetic counseling/testing. Objective: To evaluate the effectiveness of the hereditary colorectal cancer registry to identify high-risk colorectal cancer patients and have them referred for genetic counseling/testing for Lynch syndrome. DESIGN: A retrospective review and cohort comparison of both prospectively collected and retrospective data. Setting: The colorectal surgical clinic at Vanderbilt University Medical Center. Patients: A ll newly diagnosed colorectal cancer patients seen between January 2006 and October 2010. Main Outcom e Measures: To assess the identification of colorectal cancer patients at high risk for Lynch syndrome and for the occurrence of genetic counseling/testing before and after the establishment of a hereditary registry by comparing the results from the colorectal cancer patients seen the year prior to the establishment of the registry (January - December 2006, "control period") with those patients seen after initiation of the registry (January 2007 - October 2010, "registry period"). Results: During the "registry period," 495 colorectal cancer patients were seen in the clinic and 257 (51.9%) were high risk for Lynch syndrome. Forty-nine patients (9.8%) underwent genetic testing, with 27 (5.4%) positive for a gene mutation, of which half were >50 years old. By comparison, in 2006, 115 colorectal cancer patients were seen in the clinic but only 4 patients (3.5%) went on for further assessment, and only 1 had genetic testing. Retrospective assessment showed that at least 22 patients (19.1%) had warranted further investigation in 2006. Limitations: This was a single-institution, retrospective review. Conclus ion: Establishment of a hereditary colorectal cancer registry with a clinic-based protocol improves identification of Lynch syndrome.

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