We studied the impact of the ARLTS1 Pro131Leu and Cys148Arg variants on high-risk familial and familial BC risk, investigating 482 familial BC cases (including 305 high-risk cases) and 530 control individuals.
The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis.