Victorine H Roos1, Carolina Mangas-Sanjuan2, Mar Rodriguez-Girondo3, Lucia Medina-Prado2, Ewout W Steyerberg3, Patrick M M Bossuyt4, Evelien Dekker1, Rodrigo Jover2, Monique E van Leerdam5. 1. Department of Gastroenterology and Hepatology, University of Amsterdam, Department of Gastroenterology and Hepatology, Cancer Center Amsterdam, Amsterdam, The Netherlands. 2. Department of Gastroenterology, Hospital General Universitario de Alicante, Instituto de Investigación Sanitaria y Biomédica de Alicante, Alicante, Spain. 3. Department of Biomedical Data Sciences, Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands. 4. Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. 5. Department of Gastroenterology and Hepatology, Netherlands Cancer Institute, Amsterdam, the Netherlands; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: m.v.leerdam@nki.nl.
Abstract
BACKGROUND & AIMS: Guidelines recommend that individuals with familial colorectal cancer undergo colonoscopy surveillance instead of average-risk screening. However, these recommendations vary widely. To substantiate appropriate surveillance strategies, precise and valid evidence-based risk estimates are needed for individuals with a family history of colorectal cancer (CRC). METHODS: We systematically searched MEDLINE, EMBASE, and Cochrane from inception to July 2018 for case-control and cohort studies investigating the effect of family history on CRC risk. We calculated summary estimates of pooled relative risks (RRs) using a random-effects model. Life tables were created to convert RR estimates into absolute risk estimates. RESULTS: We screened 4417 articles and identified 42 eligible case-control and 20 cohort studies. In case-control studies, the RR for CRC in patients with 1 first-degree relative (FDR with CRC) was 1.92 (95% CI, 1.53-2.41) and 1.37 (95% CI, 0.76-2.46) for cohort studies. For individuals with 2 or more FDRs with CRC, the RR was 2.81 in case-control studies (95% CI, 1.73-4.55) and 2.40 in cohort studies (95% CI, 1.76-3.28). For individuals having a FDR diagnosed with CRC at an age younger than 50 years, the RR for CRC in their FDRs was 3.57 in case-control studies (95% CI, 1.07-11.85) and 3.26 in cohort studies (95% CI, 2.82-3.77). The cumulative absolute risks for CRC at 85 years in Western Europe were 4.8% for persons with 1 FDR with CRC (95% CI, 2.7%-8.3%), 8.2% for individuals with 2 or more FDRs (95% CI, 6.1%-10.9%), and 11% for persons with a FDR diagnosed with CRC at an age younger than 50 years (95% CI, 9.5%-12.4%). CONCLUSIONS: In this systematic review and meta-analysis, we found that the RR of CRC among FDRs is lower than previously expected, especially based on cohort studies. Risk estimates are affected by the number of relatives with CRC and their age at diagnosis. Intensified colonoscopy surveillance strategies could be considered for high-risk groups. PROSPERO trial identification no: CRD42018103058.
BACKGROUND & AIMS: Guidelines recommend that individuals with familial colorectal cancer undergo colonoscopy surveillance instead of average-risk screening. However, these recommendations vary widely. To substantiate appropriate surveillance strategies, precise and valid evidence-based risk estimates are needed for individuals with a family history of colorectal cancer (CRC). METHODS: We systematically searched MEDLINE, EMBASE, and Cochrane from inception to July 2018 for case-control and cohort studies investigating the effect of family history on CRC risk. We calculated summary estimates of pooled relative risks (RRs) using a random-effects model. Life tables were created to convert RR estimates into absolute risk estimates. RESULTS: We screened 4417 articles and identified 42 eligible case-control and 20 cohort studies. In case-control studies, the RR for CRC in patients with 1 first-degree relative (FDR with CRC) was 1.92 (95% CI, 1.53-2.41) and 1.37 (95% CI, 0.76-2.46) for cohort studies. For individuals with 2 or more FDRs with CRC, the RR was 2.81 in case-control studies (95% CI, 1.73-4.55) and 2.40 in cohort studies (95% CI, 1.76-3.28). For individuals having a FDR diagnosed with CRC at an age younger than 50 years, the RR for CRC in their FDRs was 3.57 in case-control studies (95% CI, 1.07-11.85) and 3.26 in cohort studies (95% CI, 2.82-3.77). The cumulative absolute risks for CRC at 85 years in Western Europe were 4.8% for persons with 1 FDR with CRC (95% CI, 2.7%-8.3%), 8.2% for individuals with 2 or more FDRs (95% CI, 6.1%-10.9%), and 11% for persons with a FDR diagnosed with CRC at an age younger than 50 years (95% CI, 9.5%-12.4%). CONCLUSIONS: In this systematic review and meta-analysis, we found that the RR of CRC among FDRs is lower than previously expected, especially based on cohort studies. Risk estimates are affected by the number of relatives with CRC and their age at diagnosis. Intensified colonoscopy surveillance strategies could be considered for high-risk groups. PROSPERO trial identification no: CRD42018103058.
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