A UK registry cohort of 1,917 patients with familial adenomatous polyposis born after 1935 was compared with matched national mortality, with 364 deaths observed against 28 expected. Relatives detected through family screening had a median standardised mortality ratio of 0.66, whereas patients presenting newly with symptoms had a median of 11.09. Colorectal disease fell from 64% of deaths before 2001 to 31% after 2013, while duodenal (3% to 12%) and gastric (1% to 8%) deaths rose.
Why it is interesting: In a rare inherited cancer syndrome, relatives found through cascade screening show no excess mortality, and the remaining deaths have shifted towards upper gastrointestinal sites.