%0 Journal Article
%A Miao, Beiping
%A Skopelitou, Diamanto
%A Srivastava, Aayushi
%A Giangiobbe, Sara
%A Dymerska, Dagmara
%A Paramasivam, Nagarajan
%A Kumar, Abhishek
%A Kuświk, Magdalena
%A Kluźniak, Wojciech
%A Paszkowska-Szczur, Katarzyna
%A Schlesner, Matthias
%A Lubinski, Jan
%A Hemminki, Kari
%A Försti, Asta
%A Bandapalli, Obul Reddy
%T Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
%J International journal of molecular sciences
%V 23
%N 3
%@ 1422-0067
%C Basel
%I Molecular Diversity Preservation International
%M DKFZ-2022-00442
%P 1295
%D 2022
%Z #EA:B062#LA:B062#
%X Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5
%K Aged
%K Cell Adhesion Molecules: genetics
%K Cell Adhesion Molecules: metabolism
%K Cell Movement: genetics
%K Cell Proliferation: genetics
%K Colorectal Neoplasms: genetics
%K Colorectal Neoplasms: pathology
%K Cyclic AMP Response Element-Binding Protein: genetics
%K Cyclin-Dependent Kinase Inhibitor p21: genetics
%K Family
%K Female
%K Genetic Predisposition to Disease
%K Germ-Line Mutation: genetics
%K Humans
%K Male
%K Middle Aged
%K Neoplasm Invasiveness: genetics
%K Oncogenes
%K Pedigree
%K Proto-Oncogene Proteins c-akt: genetics
%K Receptor Protein-Tyrosine Kinases: genetics
%K Receptor Protein-Tyrosine Kinases: metabolism
%K Tumor Suppressor Protein p53: genetics
%K Whole Exome Sequencing: methods
%K AKT signaling pathway (Other)
%K PTK7 (Other)
%K colorectal cancer (Other)
%K familial cancer variant prioritization pipeline (Other)
%K familial cancers (Other)
%K germline variant (Other)
%K CDKN1A protein, human (NLM Chemicals)
%K CREB1 protein, human (NLM Chemicals)
%K Cell Adhesion Molecules (NLM Chemicals)
%K Cyclic AMP Response Element-Binding Protein (NLM Chemicals)
%K Cyclin-Dependent Kinase Inhibitor p21 (NLM Chemicals)
%K Tumor Suppressor Protein p53 (NLM Chemicals)
%K PTK7 protein, human (NLM Chemicals)
%K Receptor Protein-Tyrosine Kinases (NLM Chemicals)
%K Proto-Oncogene Proteins c-akt (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35163215
%2 pmc:PMC8836109
%R 10.3390/ijms23031295
%U https://inrepo02.dkfz.de/record/179064