BACKGROUND & AIMS:
Guidelines recommend individuals with familial colorectal cancer (FCC) to 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).
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.
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) was 1.92 (95% CI, 1.53-2.41) and 1.37 (95% CI, 0.76-2.46) for cohort studies. For persons with 2 or more FDRs with CRC, the RRs were 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 persons 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 were 4.8% for persons with 1 FDR with CRC (95% CI, 2.7%-8.3%), 8.2% for persons 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%).
In a 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.