Clinical–alimentary tractProspective Results of Surveillance Colonoscopy in Dominant Familial Colorectal Cancer With and Without Lynch Syndrome
Section snippets
Patient Selection
All families included in this study were registered with either the Cancer Research UK Family Cancer Clinic at St. Mark’s Hospital, London, United Kingdom, or The Netherlands Foundation for the Detection of Hereditary Tumours and were enrolled in colonoscopic surveillance. All families had a history suggestive of autosomal dominant pedigree inheritance of colorectal cancer. Families either fulfilled the Amsterdam Criteria I or II8, 9 or were classified as a dominant pattern pedigree family
BAT26 Analysis
Twenty-nine out of the 97 families tested exhibited MSI and were therefore classified as Lynch syndrome families (Table 1). The median (range) age at diagnosis of cancers tested was 44 (25–75) years in the Lynch syndrome group and 54 (18–82) years in the non-Lynch syndrome group. Only 3 of the 34 MSI tumors were from individuals aged 60 years or older.
Colonoscopy Findings
A total of 776 surveillance colonoscopies were carried out in first-degree relatives from 97 families. There were 288 individuals: 91 Lynch
Discussion
In this study, we prospectively evaluated the incidence of neoplasia during endoscopic surveillance in dominant families at risk of colorectal cancer with and without Lynch syndrome. We found that non-Lynch syndrome families (without MSI/mismatch repair [MMR] deficiency) when compared with Lynch syndrome families (with MSI/MMR deficiency) are actually at equal risk of developing high-risk adenomas but at significantly lower risk of developing (interval) cancers. Individuals from non-Lynch
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Supported by a NHS Research and Development Responsive Funding Grant and The Netherlands Organization for Health, Research, and Development: ZonMw.