Whole-Exome Sequencing Identifies a Novel Germline Variant in

Autor:	Beiping, Miao, Diamanto, Skopelitou, Aayushi, Srivastava, Sara, Giangiobbe, Dagmara, Dymerska, Nagarajan, Paramasivam, Abhishek, Kumar, Magdalena, Kuświk, Wojciech, Kluźniak, Katarzyna, Paszkowska-Szczur, Matthias, Schlesner, Jan, Lubinski, Kari, Hemminki, Asta, Försti, Obul Reddy, Bandapalli
Rok vydání:	2021
Předmět:	Cyclin-Dependent Kinase Inhibitor p21 Male Receptor Protein-Tyrosine Kinases Oncogenes Middle Aged Pedigree Cell Movement Exome Sequencing Humans Family Female Genetic Predisposition to Disease Neoplasm Invasiveness Tumor Suppressor Protein p53 Colorectal Neoplasms Cyclic AMP Response Element-Binding Protein Cell Adhesion Molecules Proto-Oncogene Proteins c-akt Germ-Line Mutation Aged Cell Proliferation
Zdroj:	International journal of molecular sciences. 23(3)
ISSN:	1422-0067
Popis:	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 (
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::81afa39d167e055c725cf8ceaf98440a https://pubmed.ncbi.nlm.nih.gov/35163215 Zobrazit plný text záznamu