Article
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
Molecular genetics and genomics : MGG - 1 Jul 2022
Skopelitou Diamanto, Srivastava Aayushi, Miao Beiping, Kumar Abhishek, Dymerska Dagmara, Paramasivam Nagarajan, Schlesner Matthias, Lubinski Jan, Hemminki Kari, Försti Asta, Reddy Bandapalli Obul
Abstract excerpt
About 15% of colorectal cancer (CRC) patients have first-degree relatives affected by the same malignancy. However, for most families the cause of familial aggregation of CRC is unknown. To identify novel high-to-moderate-penetrance germline variants underlying CRC susceptibility, we performed whole exome sequencing (WES) on four CRC cases and two unaffected members of a Polish family without any mutation in...
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