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BMC Cancer . 2020 May 24

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

Tudor Mocan, André L Simão, Rui E Castro, Cecília M P Rodrigues, Artur Słomka, Bingduo Wang, Christian Strassburg, Aliona Wöhler, Arnulf G Willms, Miroslaw Kornek, Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski-Feder, Stefanie Holzapfel, Robert Hüneburg, Matthias Kloor, Magnus von Knebel Doeberitz, Monika Morak, Gabriela Möslein, Jacob Nattermann, Claudia Perne, Nils Rahner, Wolff Schmiegel, Karsten Schulmann, Verena Steinke-Lange, Christian P Strassburg, Deepak B Vangala, Jürgen Weitz, Markus Loeffler, Christoph Engel, German Consortium for Familial Intestinal Cancer

Background: Individuals with pathogenic germline variants in DNA mismatch repair (MMR) genes are at increased risk of developing colorectal, endometrial and other cancers (Lynch syndrome, LS). While previous studies have extensively described cancer risks in LS, cancer risks in individuals from families without detectable MMR gene defects despite MMR deficiency (Lynch-like syndrome, LLS), and in individuals from families fulfilling the Amsterdam-II criteria without any signs of MMR deficiency (familial colorectal cancer type X, FCCX) are less well studied. The aim of this prospective study was to characterise the risk for different cancer types in LS, LLS, and FCCX, and to compare these with the cancer risks in the general population.

PMID: 32448342