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000179064 1001_ $$0P:(DE-He78)b5b786a7a28d851956ba90aa9451887a$$aMiao, Beiping$$b0$$eFirst author$$udkfz
000179064 245__ $$aWhole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
000179064 260__ $$aBasel$$bMolecular Diversity Preservation International$$c2022
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000179064 520__ $$aColorectal 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.
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000179064 650_7 $$2Other$$aAKT signaling pathway
000179064 650_7 $$2Other$$aPTK7
000179064 650_7 $$2Other$$acolorectal cancer
000179064 650_7 $$2Other$$afamilial cancer variant prioritization pipeline
000179064 650_7 $$2Other$$afamilial cancers
000179064 650_7 $$2Other$$agermline variant
000179064 650_7 $$2NLM Chemicals$$aCDKN1A protein, human
000179064 650_7 $$2NLM Chemicals$$aCREB1 protein, human
000179064 650_7 $$2NLM Chemicals$$aCell Adhesion Molecules
000179064 650_7 $$2NLM Chemicals$$aCyclic AMP Response Element-Binding Protein
000179064 650_7 $$2NLM Chemicals$$aCyclin-Dependent Kinase Inhibitor p21
000179064 650_7 $$2NLM Chemicals$$aTumor Suppressor Protein p53
000179064 650_7 $$0EC 2.7.10.1$$2NLM Chemicals$$aPTK7 protein, human
000179064 650_7 $$0EC 2.7.10.1$$2NLM Chemicals$$aReceptor Protein-Tyrosine Kinases
000179064 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aProto-Oncogene Proteins c-akt
000179064 650_2 $$2MeSH$$aAged
000179064 650_2 $$2MeSH$$aCell Adhesion Molecules: genetics
000179064 650_2 $$2MeSH$$aCell Adhesion Molecules: metabolism
000179064 650_2 $$2MeSH$$aCell Movement: genetics
000179064 650_2 $$2MeSH$$aCell Proliferation: genetics
000179064 650_2 $$2MeSH$$aColorectal Neoplasms: genetics
000179064 650_2 $$2MeSH$$aColorectal Neoplasms: pathology
000179064 650_2 $$2MeSH$$aCyclic AMP Response Element-Binding Protein: genetics
000179064 650_2 $$2MeSH$$aCyclin-Dependent Kinase Inhibitor p21: genetics
000179064 650_2 $$2MeSH$$aFamily
000179064 650_2 $$2MeSH$$aFemale
000179064 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000179064 650_2 $$2MeSH$$aGerm-Line Mutation: genetics
000179064 650_2 $$2MeSH$$aHumans
000179064 650_2 $$2MeSH$$aMale
000179064 650_2 $$2MeSH$$aMiddle Aged
000179064 650_2 $$2MeSH$$aNeoplasm Invasiveness: genetics
000179064 650_2 $$2MeSH$$aOncogenes
000179064 650_2 $$2MeSH$$aPedigree
000179064 650_2 $$2MeSH$$aProto-Oncogene Proteins c-akt: genetics
000179064 650_2 $$2MeSH$$aReceptor Protein-Tyrosine Kinases: genetics
000179064 650_2 $$2MeSH$$aReceptor Protein-Tyrosine Kinases: metabolism
000179064 650_2 $$2MeSH$$aTumor Suppressor Protein p53: genetics
000179064 650_2 $$2MeSH$$aWhole Exome Sequencing: methods
000179064 7001_ $$0P:(DE-He78)cea283034a4f6c64994f85d4444e7494$$aSkopelitou, Diamanto$$b1
000179064 7001_ $$0P:(DE-He78)43b43c5f20ed70299251a446ad8ec973$$aSrivastava, Aayushi$$b2
000179064 7001_ $$0P:(DE-He78)f18e077aae13edd9d0d8b911cfcd8e0f$$aGiangiobbe, Sara$$b3
000179064 7001_ $$aDymerska, Dagmara$$b4
000179064 7001_ $$aParamasivam, Nagarajan$$b5
000179064 7001_ $$0P:(DE-He78)da09d83faa85c143d15611698f7b1eac$$aKumar, Abhishek$$b6
000179064 7001_ $$00000-0001-9070-747X$$aKuświk, Magdalena$$b7
000179064 7001_ $$aKluźniak, Wojciech$$b8
000179064 7001_ $$aPaszkowska-Szczur, Katarzyna$$b9
000179064 7001_ $$0P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aSchlesner, Matthias$$b10$$udkfz
000179064 7001_ $$00000-0003-2931-3003$$aLubinski, Jan$$b11
000179064 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b12$$udkfz
000179064 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b13$$udkfz
000179064 7001_ $$0P:(DE-He78)b11ccde1801d45d32a6a60f7b396d7dc$$aBandapalli, Obul Reddy$$b14$$eLast author
000179064 773__ $$0PERI:(DE-600)2019364-6$$a10.3390/ijms23031295$$gVol. 23, no. 3, p. 1295 -$$n3$$p1295$$tInternational journal of molecular sciences$$v23$$x1422-0067$$y2022
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