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. 2020 Sep 24;11:566266. doi: 10.3389/fgene.2020.566266

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Copyright © 2020 Djursby, Madsen, Frederiksen, Berchtold, Therkildsen, Willemoe, Hasselby, Wikman, Okkels, Skytte, Nilbert, Wadt, Gerdes and van Overeem Hansen.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigrees of selected families. (A) Family 27. POLE c.1089C>A, p.(Asn363Lys). (B) Family 165. MSH2 c.2168C>T, p.(Ser723Phe). (C) Family 92. RPS20 c.98A>T, p.(Glu33Val). Adn., colonic adenomas; BC, breast cancer; CC, colon cancer; CeC, cervical cancer; CeCIS, cervical carcinoma in situ; CRC, colorectal cancer; GC, gastric cancer; GEJ, malignant gastroesophageal junction tumor; IHC, immunohistochemistry; KC, kidney cancer; LC, lung cancer; MDP, malignant major duodenal papilla tumor; MM, malignant melanoma; MSI-H, microsatellite instability high; RC, rectal cancer; VC, vulvar cancer; Y.o, years old. Numbers in parentheses refer to age at diagnosis. + variant carrier, (+) obliged variant carrier (not tested), ? unknown carrier status, ?* unknown carrier status (analysis failed), −non-carrier.