Colorectal cancer: no longer the issue in familial adenomatous polyposis? Daniel C. Gibbons • Ashish Sinha • Robin K. S. Phillips • Susan K. Clark Published online: 4 November 2010 Ó Springer Science+Business Media B.V. 2010 Abstract Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal cancer (CRC) syndrome with an untreated lifetime prevalence of CRC close to 100% and extracolonic manifestations (ECM) of increasing clini- cal significance. This study examined the effect of system- atic callup and prophylactic colectomy on FAP survival. Patients diagnosed, treated and followed-up at our institution were analysed. ‘Callups’ were those identified via the callup system; ‘probands’ were those identified by other means. Proportions were analysed by Chi-squared or Fischer’s exact test. Mortality rates were indirectly standardised to the UK population. Survival curves from birth were estimated by Kaplan–Meier. A total of 439 patients (293 callups, 146 probands) were analysed. Crude mortality rates (CMRs) of callups and probands were 4.85 per 1,000 person years (PY) and 9.71 per 1,000 PY, respectively—a rate ratio of 0.50 (95% CI 0.34–0.72, P = 0.0001). The standardised mortality ratio (SMR) of callups was non-significantly lower than probands (4.12 vs. 4.70). Callups experienced non-signifi- cantly lower age-band specific SMR up to 45 years. More probands died of CRC (42.4 vs. 22.5%, P = 0.025), whereas more callups died of ECM (30.6 vs. 13.4%, P = 0.027). Median survival was 64 years for callups and 60 years for probands; survival curves did not differ significantly (P = 0.253). The crude mortality rate of callups is approx- imately half that of probands. As fewer callups die of CRC, a greater proportion die of ECMs. Callups experienced non- significantly reduced mortality up to 45 years. Whilst the FAP callup system reduces CRC risk, mortality attributable to ECMs needs to be addressed. Keywords Cause of death  Colorectal cancer  FAP  Extracolonic manifestations  Survival Abbrevations APC Adenomatous polyposis coli (gene) CI Confidence interval CMR Crude mortality ration CRC Colorectal cancer ECM Extracolonic manifestations FAP Familial adenomatous polyposis NHS National health service (UK) OR Odds ratio PY Person-years RR Relative risk SMR Standardised mortality ratio Introduction In 2006, there were 37,514 new cases of colorectal cancer (CRC) in the UK, occurring at a rate of 45.3 per 100,000 population [1]. Familial adenomatous polyposis (FAP) accounts for less than 1% of these [2]. FAP is estimated to occur at a frequency of around 1 in 10,000 live births [3] with an estimated prevalence of 1 in D. C. Gibbons Academic Clinical Fellow, Department of Primary Care, School of Public Health, Imperial College London, Harrow, UK A. Sinha Clinical Research Fellow, Polyposis Registry, St Mark’s Hospital and Imperial College London, Harrow, UK R. K. S. Phillips  S. K. Clark (&) Consultant Colorectal Surgeon and Assistant Director, The Polyposis Registry, St Mark’s Hospital, Imperial College London, Harrow HA1 3UJ, UK e-mail: sue.clark@nwlh.nhs.uk 123 Familial Cancer (2011) 10:11–20 DOI 10.1007/s10689-010-9394-x