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Article

Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.

International journal of molecular sciences - 24 Jan 2022

Miao Beiping, Skopelitou Diamanto, Srivastava Aayushi, Giangiobbe Sara, Dymerska Dagmara, Paramasivam Nagarajan, Kumar Abhishek, Kuświk Magdalena, Kluźniak Wojciech, Paszkowska-Szczur Katarzyna, Schlesner Matthias, Lubinski Jan, Hemminki Kari, Försti Asta, Bandapalli Obul Reddy

Abstract excerpt

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...

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PMID: 35163215
DOI: 10.3390/ijms23031295
PMCID: PMC8836109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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