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Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome.
Gastroenterology 2006; 130(7):1995-2000G

Abstract

BACKGROUND & AIMS

Lynch syndrome is an autosomal dominant predisposition to colorectal cancer caused by mutations in DNA mismatch repair genes; colorectal cancer risk is high. Few studies have addressed colorectal cancer risk in individuals from dominant families without mismatch repair deficiency. We sought to establish whether these individuals are also at increased risk by examining the incidence of advanced neoplasia during surveillance.

METHODS

In this prospective cohort study, BAT26 testing of tumors was carried out at 2 tertiary centers on 125 individuals from 97 families (with a dominant colorectal cancer history) to classify families as Lynch syndrome (microsatellite unstable) or non-Lynch syndrome (microsatellite stable). Colonoscopy results in 288 at-risk family members were compared.

RESULTS

Twenty-nine families were classified as Lynch syndrome and 68 as non-Lynch syndrome. Seven hundred seventy-six colonoscopies were undertaken. High-risk adenomas occurred in 7 of 91 (7.7%) Lynch syndrome individuals and 15 of 197 (7.6%) non-Lynch syndrome individuals, adjusted relative risk 1.15 (95% CI: 0.6-2.3). Cancer was observed only in Lynch syndrome individuals (4/91; 4.4%), Fisher exact test, P = .010. Multiple adenomas were only seen in non-Lynch syndrome individuals (13/197; 6.6%), Fisher exact text, P = .06.

CONCLUSIONS

Individuals with an autosomal dominant family history of colorectal cancer with and without evidence of Lynch syndrome are at equal risk of high-risk adenomas during surveillance, but colorectal cancer was only seen in Lynch syndrome. Therefore non-Lynch syndrome individuals do require colonoscopic surveillance, but the interval could be lengthened because risk of (interval) cancer is low. Lynch syndrome individuals require short surveillance intervals as is the recommended practice.

Authors+Show Affiliations

Family Cancer Group, Cancer Research, UK Colorectal Cancer Unit, St. Mark's Hospital, Watford Road, Harrow, Middlesex, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16762622

Citation

Dove-Edwin, Isis, et al. "Prospective Results of Surveillance Colonoscopy in Dominant Familial Colorectal Cancer With and Without Lynch Syndrome." Gastroenterology, vol. 130, no. 7, 2006, pp. 1995-2000.
Dove-Edwin I, de Jong AE, Adams J, et al. Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology. 2006;130(7):1995-2000.
Dove-Edwin, I., de Jong, A. E., Adams, J., Mesher, D., Lipton, L., Sasieni, P., ... Thomas, H. J. (2006). Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology, 130(7), pp. 1995-2000.
Dove-Edwin I, et al. Prospective Results of Surveillance Colonoscopy in Dominant Familial Colorectal Cancer With and Without Lynch Syndrome. Gastroenterology. 2006;130(7):1995-2000. PubMed PMID: 16762622.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. AU - Dove-Edwin,Isis, AU - de Jong,Andrea E, AU - Adams,Joanna, AU - Mesher,David, AU - Lipton,Lara, AU - Sasieni,Peter, AU - Vasen,Hans F A, AU - Thomas,Huw J W, PY - 2005/12/19/received PY - 2006/03/09/accepted PY - 2006/6/10/pubmed PY - 2006/7/19/medline PY - 2006/6/10/entrez SP - 1995 EP - 2000 JF - Gastroenterology JO - Gastroenterology VL - 130 IS - 7 N2 - BACKGROUND & AIMS: Lynch syndrome is an autosomal dominant predisposition to colorectal cancer caused by mutations in DNA mismatch repair genes; colorectal cancer risk is high. Few studies have addressed colorectal cancer risk in individuals from dominant families without mismatch repair deficiency. We sought to establish whether these individuals are also at increased risk by examining the incidence of advanced neoplasia during surveillance. METHODS: In this prospective cohort study, BAT26 testing of tumors was carried out at 2 tertiary centers on 125 individuals from 97 families (with a dominant colorectal cancer history) to classify families as Lynch syndrome (microsatellite unstable) or non-Lynch syndrome (microsatellite stable). Colonoscopy results in 288 at-risk family members were compared. RESULTS: Twenty-nine families were classified as Lynch syndrome and 68 as non-Lynch syndrome. Seven hundred seventy-six colonoscopies were undertaken. High-risk adenomas occurred in 7 of 91 (7.7%) Lynch syndrome individuals and 15 of 197 (7.6%) non-Lynch syndrome individuals, adjusted relative risk 1.15 (95% CI: 0.6-2.3). Cancer was observed only in Lynch syndrome individuals (4/91; 4.4%), Fisher exact test, P = .010. Multiple adenomas were only seen in non-Lynch syndrome individuals (13/197; 6.6%), Fisher exact text, P = .06. CONCLUSIONS: Individuals with an autosomal dominant family history of colorectal cancer with and without evidence of Lynch syndrome are at equal risk of high-risk adenomas during surveillance, but colorectal cancer was only seen in Lynch syndrome. Therefore non-Lynch syndrome individuals do require colonoscopic surveillance, but the interval could be lengthened because risk of (interval) cancer is low. Lynch syndrome individuals require short surveillance intervals as is the recommended practice. SN - 0016-5085 UR - https://www.unboundmedicine.com/medline/citation/16762622/Prospective_results_of_surveillance_colonoscopy_in_dominant_familial_colorectal_cancer_with_and_without_Lynch_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0016-5085(06)00567-1 DB - PRIME DP - Unbound Medicine ER -