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Heritable genetic variants can significantly affect the lifetime risk of developing cancer, including polyposis and colorectal cancer ( CRC ). Variants in genes currently known to be associated with a high risk for polyposis or  CRC , however, explain only a limited number of hereditary cases. The identification of additional genetic causes is, therefore, crucial to improve  CRC  prevention, detection and treatment. We have performed genome‐wide and targeted  DNA  copy number profiling and resequencing in early‐onset and familial polyposis/ CRC  patients, and show that deletions affecting the open reading frame of the tumour suppressor gene   FOCAD   are recurrent and significantly enriched in  CRC  patients compared with unaffected controls. All patients carrying   FOCAD   deletions exhibited a personal or family history of polyposis.  RNA   in situ  hybridization revealed   FOCAD   expression in epithelial cells in the colonic crypt, the site of tumour initiation, as well as in colonic tumours and organoids. Our data suggest that monoallelic germline deletions in the tumour suppressor gene   FOCAD   underlie moderate genetic predisposition to the development of polyposis and  CRC . © 2015 Authors. Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.

Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development