TY  - JOUR
AU  - Ahadova, Aysel
AU  - Gallon, Richard
AU  - Gebert, Johannes
AU  - Ballhausen, Alexej
AU  - Endris, Volker
AU  - Kirchner, Martina
AU  - Stenzinger, Albrecht
AU  - Burn, John
AU  - von Knebel Doeberitz, Magnus
AU  - Bläker, Hendrik
AU  - Kloor, Matthias
TI  - Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.
JO  - International journal of cancer
VL  - 143
IS  - 1
SN  - 0020-7136
CY  - Bognor Regis
PB  - Wiley-Liss
M1  - DKFZ-2018-00593
SP  - 139 - 150
PY  - 2018
AB  - Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7
LB  - PUB:(DE-HGF)16
C6  - pmid:29424427
DO  - DOI:10.1002/ijc.31300
UR  - https://inrepo02.dkfz.de/record/134800
ER  -