High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers

Familial Adenomatous Polyposis (FAP) is a rare inherited syndrome due to APC gene mutation. The extensive colorectal polyps and cancer risk requires lifelong endoscopic surveillance, often with preventive colorectal surgery before cancer development. FAP manifestation depend on the location of APC mutation which could vary in different populations. We report several novel mutations and a 90% colorectal cancer risk and 30% aggressive fibromatosis risk in the first non-Caucasian FAP cohort and its risk factors. Such information is critical for counselling and risk management and should be determined in APC mutation carriers from different ethnicities, with close cooperation between global FAP registries. (By Dr Rajiv Sarin, https://jmg.bmj.com/content/early/2021/03/24/jmedgenet-2021-107731 )

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