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Article

A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome.

Journal of molecular medicine (Berlin, Germany) - 1 Oct 2023

Yan Jinhua, Wu Jinzheng, Wang Yang, Di Xiaotang, Jiang Hao, Wen Doudou, Li Duo, Zhang Shubing

Abstract excerpt

Screening tumor susceptibility genes helps in identifying powerful biomarkers for hereditary cancer monitoring, prevention, and diagnosis, providing opportunities for understanding potential molecular mechanisms and biomarkers for the precise treatment of hereditary cancer syndromes. Whole-exome sequencing of blood and bioinformatics analysis uncovered a novel RBBP8(p.E281*) germline mutation in a family with...

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PMID: 37615686
DOI: 10.1007/s00109-023-02354-z

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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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