Katharina Wimmer Andreas Beilken Rainer Nustede Tim Ripperger Britta Lamottke Benno Ure Diana Steinmann Tanja Reineke-Plaass Ulrich Lehmann Johannes Zschocke Laura Valle Christine Fauth Christian P Kratz
10.1007/s10689-016-9925-1
Fam Cancer
2017 Jan;16(1):67-71.
café-au-lait macule colon cancer constitutional mismatch repair deficiency pilomatricoma polymerase proofreading-associated polyposis
CC BY
https://pubmed.ncbi.nlm.nih.gov/27573199/
Brain Neoplasms / genetics Colorectal Neoplasms / genetics DNA Polymerase II / genetics Germ-Line Mutation Neoplastic Syndromes, Hereditary / genetics
Brain Neoplasms / genetics Colorectal Neoplasms / genetics DNA Polymerase II / genetics Germ-Line Mutation Neoplastic Syndromes, Hereditary / genetics Case Reports Adolescent Age of Onset Cafe-au-Lait Spots / genetics Hair Diseases / genetics Humans Male Microsatellite Instability Pilomatrixoma / genetics Poly-ADP-Ribose Binding Proteins Skin Neoplasms / genetics Poly-ADP-Ribose Binding Proteins DNA Polymerase II POLE protein, human Turcot syndrome
PMC5243902
27573199
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
2017