article_metadata: 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
article_metadata: 10.1007/s10689-016-9925-1
article_metadata: Fam Cancer
article_metadata: 2017 Jan;16(1):67-71.
article_metadata: café-au-lait macule colon cancer constitutional mismatch repair deficiency pilomatricoma polymerase proofreading-associated polyposis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27573199/
article_metadata: Brain Neoplasms / genetics Colorectal Neoplasms / genetics DNA Polymerase II / genetics Germ-Line Mutation Neoplastic Syndromes, Hereditary / genetics
article_metadata: 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
article_metadata: PMC5243902
article_metadata: 27573199
article_metadata: A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
article_metadata: 2017