Ian Tomlinson

Photo of Ian TomlinsonIan Tomlinson works at the University of Oxford. One of his major interests is the identification of colorectal cancer predisposition genes. He has a particular interest in polyp susceptibility, including the Mendelian polyposis syndromes.

He is talking at the Plenary Meeting on Friday at 11.30 about PPAP and NAP.

“In this short talk, I present an update on the two newest polyposis syndromes, PPAP and NAP. Each has similar clinical features and reults from defects in DNA repair, but the inheritance and underlying mechanisms differ considerably. Furthermore, one of the PPAP genes, POLE, is mutated in sub-sets of sporadic colorectal and endometrial cancers, and indicates exceptionally good prognosis in the adjuvant setting. Finally, I speculate on the causes of the remaining adenomatous and serrated polyposis cases without a known genetic basis, and consider strategies for determining whether any of these individuals have readily detectable high-penetrance mutations in uncharacterised genes.”