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Patients with hyperplastic polyposis syndrome (HPS) harbour multiple colorectal hyperplastic polyps and are at risk of developing colorectal cancer (CRC).1–6 In a recent study we determined the RR of CRC (5.4; 95% CI 3.7 to 7.8) and HPS (39; 95% CI 13 to 121) in first-degree relatives (FDRs) of patients with HPS compared with the general population.7 Win et al raised concerns that probands in our study might have been ‘preferentially ascertained because of a known family history (to any degree of genetic relatedness) of CRC’ which would lead to an ascertainment bias. This would then overestimate the familial risk of CRC.
As discussed in the original paper, the majority of probands included in our cohort were symptomatic and thus did not encompass preferentially ascertained individuals with …