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Article

Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.

International journal of molecular sciences - 12 Feb 2021

Skopelitou Diamanto, Miao Beiping, Srivastava Aayushi, Kumar Abhishek, Kuswick Magdalena, Dymerska Dagmara, Paramasivam Nagarajan, Schlesner Matthias, Lubinski Jan, Hemminki Kari, Försti Asta, Bandapalli Obul Reddy

Abstract excerpt

Germline mutations in predisposition genes account for only 20% of all familial colorectal cancers (CRC) and the remaining genetic burden may be due to rare high- to moderate-penetrance germline variants that are not explored. With the aim of identifying such potential cancer-predisposing variants, we performed whole exome sequencing on three CRC cases and three unaffected members of a Polish family and...

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Identifiers

PMID: 33673279
DOI: 10.3390/ijms22041837
PMCID: PMC7917948

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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