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| Home > Publications database > Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. > print |
| 001 | 179064 | ||
| 005 | 20240229145531.0 | ||
| 024 | 7 | _ | |a 10.3390/ijms23031295 |2 doi |
| 024 | 7 | _ | |a pmid:35163215 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC8836109 |2 pmc |
| 024 | 7 | _ | |a 1422-0067 |2 ISSN |
| 024 | 7 | _ | |a 1661-6596 |2 ISSN |
| 037 | _ | _ | |a DKFZ-2022-00442 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 540 |
| 100 | 1 | _ | |a Miao, Beiping |0 P:(DE-He78)b5b786a7a28d851956ba90aa9451887a |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. |
| 260 | _ | _ | |a Basel |c 2022 |b Molecular Diversity Preservation International |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1646821948_1989 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #EA:B062#LA:B062# |
| 520 | _ | _ | |a Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we performed whole-exome sequencing on six members of a Polish family diagnosed with CRC and identified a novel germline variant in the protein tyrosine kinase 7 (inactive) gene (PTK7, ENST00000230419, V354M). Targeted screening of the variant in 1705 familial CRC cases and 1674 healthy elderly individuals identified the variant in an additional familial CRC case. Introduction of this variant in HT-29 cells resulted in increased cell proliferation, migration, and invasion; it also caused down-regulation of CREB, p21 and p53 mRNA and protein levels, and increased AKT phosphorylation. These changes indicated inhibition of apoptosis pathways and activation of AKT signaling. Our study confirmed the oncogenic function of PTK7 and supported its role in genetic predisposition of familial CRC. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a AKT signaling pathway |2 Other |
| 650 | _ | 7 | |a PTK7 |2 Other |
| 650 | _ | 7 | |a colorectal cancer |2 Other |
| 650 | _ | 7 | |a familial cancer variant prioritization pipeline |2 Other |
| 650 | _ | 7 | |a familial cancers |2 Other |
| 650 | _ | 7 | |a germline variant |2 Other |
| 650 | _ | 7 | |a CDKN1A protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a CREB1 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Cell Adhesion Molecules |2 NLM Chemicals |
| 650 | _ | 7 | |a Cyclic AMP Response Element-Binding Protein |2 NLM Chemicals |
| 650 | _ | 7 | |a Cyclin-Dependent Kinase Inhibitor p21 |2 NLM Chemicals |
| 650 | _ | 7 | |a Tumor Suppressor Protein p53 |2 NLM Chemicals |
| 650 | _ | 7 | |a PTK7 protein, human |0 EC 2.7.10.1 |2 NLM Chemicals |
| 650 | _ | 7 | |a Receptor Protein-Tyrosine Kinases |0 EC 2.7.10.1 |2 NLM Chemicals |
| 650 | _ | 7 | |a Proto-Oncogene Proteins c-akt |0 EC 2.7.11.1 |2 NLM Chemicals |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Cell Adhesion Molecules: genetics |2 MeSH |
| 650 | _ | 2 | |a Cell Adhesion Molecules: metabolism |2 MeSH |
| 650 | _ | 2 | |a Cell Movement: genetics |2 MeSH |
| 650 | _ | 2 | |a Cell Proliferation: genetics |2 MeSH |
| 650 | _ | 2 | |a Colorectal Neoplasms: genetics |2 MeSH |
| 650 | _ | 2 | |a Colorectal Neoplasms: pathology |2 MeSH |
| 650 | _ | 2 | |a Cyclic AMP Response Element-Binding Protein: genetics |2 MeSH |
| 650 | _ | 2 | |a Cyclin-Dependent Kinase Inhibitor p21: genetics |2 MeSH |
| 650 | _ | 2 | |a Family |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Genetic Predisposition to Disease |2 MeSH |
| 650 | _ | 2 | |a Germ-Line Mutation: genetics |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Neoplasm Invasiveness: genetics |2 MeSH |
| 650 | _ | 2 | |a Oncogenes |2 MeSH |
| 650 | _ | 2 | |a Pedigree |2 MeSH |
| 650 | _ | 2 | |a Proto-Oncogene Proteins c-akt: genetics |2 MeSH |
| 650 | _ | 2 | |a Receptor Protein-Tyrosine Kinases: genetics |2 MeSH |
| 650 | _ | 2 | |a Receptor Protein-Tyrosine Kinases: metabolism |2 MeSH |
| 650 | _ | 2 | |a Tumor Suppressor Protein p53: genetics |2 MeSH |
| 650 | _ | 2 | |a Whole Exome Sequencing: methods |2 MeSH |
| 700 | 1 | _ | |a Skopelitou, Diamanto |0 P:(DE-He78)cea283034a4f6c64994f85d4444e7494 |b 1 |
| 700 | 1 | _ | |a Srivastava, Aayushi |0 P:(DE-He78)43b43c5f20ed70299251a446ad8ec973 |b 2 |
| 700 | 1 | _ | |a Giangiobbe, Sara |0 P:(DE-He78)f18e077aae13edd9d0d8b911cfcd8e0f |b 3 |
| 700 | 1 | _ | |a Dymerska, Dagmara |b 4 |
| 700 | 1 | _ | |a Paramasivam, Nagarajan |b 5 |
| 700 | 1 | _ | |a Kumar, Abhishek |0 P:(DE-He78)da09d83faa85c143d15611698f7b1eac |b 6 |
| 700 | 1 | _ | |a Kuświk, Magdalena |0 0000-0001-9070-747X |b 7 |
| 700 | 1 | _ | |a Kluźniak, Wojciech |b 8 |
| 700 | 1 | _ | |a Paszkowska-Szczur, Katarzyna |b 9 |
| 700 | 1 | _ | |a Schlesner, Matthias |0 P:(DE-He78)f2a782242acf94a3114d75c45dc75b37 |b 10 |u dkfz |
| 700 | 1 | _ | |a Lubinski, Jan |0 0000-0003-2931-3003 |b 11 |
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| 700 | 1 | _ | |a Bandapalli, Obul Reddy |0 P:(DE-He78)b11ccde1801d45d32a6a60f7b396d7dc |b 14 |e Last author |
| 773 | _ | _ | |a 10.3390/ijms23031295 |g Vol. 23, no. 3, p. 1295 - |0 PERI:(DE-600)2019364-6 |n 3 |p 1295 |t International journal of molecular sciences |v 23 |y 2022 |x 1422-0067 |
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