Pål Møller

Pål MøllerPål Møller was educated as clinical geneticist and has since 1988 run an outpatient clinical genetic department holding all information on every patients since the start in his electronical files.

He has focused on prospective studies in Norway and internationally for path_BRCA carriers together with Steven Narod, participated in the European demonstration programme on how to implement BRCA testing clinically and current member of ENIGMA and InSiGHT.

He established the Prospective Lynch Syndrome Database to excape from the ascertainment biases in retrospective studies, and will talk about the prospectively observed penetrance and expressivity of the different path_MMR variants.

Carriers of path_MMR variants: penetrance, expressivity and survival

Both to escape from the biases in retrospective studies and to describe how current health care improves survival in Lynch syndrome, we have established The Prospective Lynch Syndrome Database as a collaborative effort. Having included 3,215 patients prospectively observed for 21,535 years, we started analyzing the dataset. The main findings are that the path_MLH1, path_MSH2, path_MSH6 and path_PMS2 variants have different penetrance and expressions. Colorectal cancer incidence is high despite colonoscopies compliant with current guidelines. In contrast to in former generations, most of the early-onset colorectal, endometrial and ovarian cancers are now cured, leading to the current new situation of an aging LS patient cohort having increasing numbers of late onset cancers in other organs. Some of these extra-colonic cancers have severe prognosis. Clinical guidelines should be revised considering these findings to arrive at more specific advices based on the individual patient’s age, gender and genetic variants.

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