TY  - JOUR
AU  - Miao, Beiping
AU  - Skopelitou, Diamanto
AU  - Srivastava, Aayushi
AU  - Giangiobbe, Sara
AU  - Dymerska, Dagmara
AU  - Paramasivam, Nagarajan
AU  - Kumar, Abhishek
AU  - Kuświk, Magdalena
AU  - Kluźniak, Wojciech
AU  - Paszkowska-Szczur, Katarzyna
AU  - Schlesner, Matthias
AU  - Lubinski, Jan
AU  - Hemminki, Kari
AU  - Försti, Asta
AU  - Bandapalli, Obul Reddy
TI  - Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
JO  - International journal of molecular sciences
VL  - 23
IS  - 3
SN  - 1422-0067
CY  - Basel
PB  - Molecular Diversity Preservation International
M1  - DKFZ-2022-00442
SP  - 1295
PY  - 2022
N1  - #EA:B062#LA:B062#
AB  - Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5
KW  - Aged
KW  - Cell Adhesion Molecules: genetics
KW  - Cell Adhesion Molecules: metabolism
KW  - Cell Movement: genetics
KW  - Cell Proliferation: genetics
KW  - Colorectal Neoplasms: genetics
KW  - Colorectal Neoplasms: pathology
KW  - Cyclic AMP Response Element-Binding Protein: genetics
KW  - Cyclin-Dependent Kinase Inhibitor p21: genetics
KW  - Family
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Germ-Line Mutation: genetics
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Neoplasm Invasiveness: genetics
KW  - Oncogenes
KW  - Pedigree
KW  - Proto-Oncogene Proteins c-akt: genetics
KW  - Receptor Protein-Tyrosine Kinases: genetics
KW  - Receptor Protein-Tyrosine Kinases: metabolism
KW  - Tumor Suppressor Protein p53: genetics
KW  - Whole Exome Sequencing: methods
KW  - AKT signaling pathway (Other)
KW  - PTK7 (Other)
KW  - colorectal cancer (Other)
KW  - familial cancer variant prioritization pipeline (Other)
KW  - familial cancers (Other)
KW  - germline variant (Other)
KW  - CDKN1A protein, human (NLM Chemicals)
KW  - CREB1 protein, human (NLM Chemicals)
KW  - Cell Adhesion Molecules (NLM Chemicals)
KW  - Cyclic AMP Response Element-Binding Protein (NLM Chemicals)
KW  - Cyclin-Dependent Kinase Inhibitor p21 (NLM Chemicals)
KW  - Tumor Suppressor Protein p53 (NLM Chemicals)
KW  - PTK7 protein, human (NLM Chemicals)
KW  - Receptor Protein-Tyrosine Kinases (NLM Chemicals)
KW  - Proto-Oncogene Proteins c-akt (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:35163215
C2  - pmc:PMC8836109
DO  - DOI:10.3390/ijms23031295
UR  - https://inrepo02.dkfz.de/record/179064
ER  -