Sigve Nakken

TL;DR: The four Lynch syndrome-associated genes had different penetrance and expression, and colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths.

TL;DR: Carriers of different path_MMR variants exhibit distinct patterns of cancer risk and survival as they age, and risk estimates for counselling and planning of surveillance and treatment should be tailored to each patient’s age, gender and path-MMR variant.

TL;DR: Management guidelines for Lynch syndrome may require revision in light of these different gene and gender-specific risks and the good prognosis for the most commonly associated cancers.

TL;DR: It is shown that using PCR-free methods and increasing sequencing depth to ∼100 × shows benefits, as long as the tumour:control coverage ratio remains balanced, and many issues are in fact easy to remedy and have an immediate positive impact on mutation detection accuracy.

TL;DR: In this paper, the authors address three questions: (i) what is the cumulative incidence of a subsequent cancer; (ii) in which organs do subsequent cancers occur; and (iii) the survival following these cancers? Design Information was collated on prospectively organized surveillance and prospectively observed outcomes in patients with Lynch syndrome who had cancer prior to inclusion and analysed by age, gender and genetic variants.