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Article ; Online: Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with

Ajore, Ram / Raiser, David / McConkey, Marie / Jöud, Magnus / Boidol, Bernd / Mar, Brenton / Saksena, Gordon / Weinstock, David M / Armstrong, Scott / Ellis, Steven R / Ebert, Benjamin L / Nilsson, Björn

EMBO molecular medicine

2017  Volume 9, Issue 4, Page(s) 498–507

Abstract: Heterozygous inactivating mutations in ribosomal protein genes (RPGs) are associated ... selective pressure of RPG lesions across human cancers. We found that hemizygous RPG deletions are common ... with hematopoietic and developmental abnormalities, activation of p53, and altered risk of cancer in humans and model ...

Abstract Heterozygous inactivating mutations in ribosomal protein genes (RPGs) are associated with hematopoietic and developmental abnormalities, activation of p53, and altered risk of cancer in humans and model organisms. Here we performed a large-scale analysis of cancer genome data to examine the frequency and selective pressure of RPG lesions across human cancers. We found that hemizygous RPG deletions are common, occurring in about 43% of 10,744 cancer specimens and cell lines. Consistent with p53-dependent negative selection, such lesions are underrepresented in
MeSH term(s) Cell Line, Tumor ; Gene Deletion ; Gene Expression Regulation, Neoplastic ; Humans ; Mutation ; Neoplasms/pathology ; Ribosomal Proteins/genetics ; Tumor Suppressor Protein p53/genetics
Chemical Substances Ribosomal Proteins ; TP53 protein, human ; Tumor Suppressor Protein p53
Language English
Publishing date 2017-03-06
Publishing country England
Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID 2467145-9
ISSN 1757-4684 ; 1757-4676
ISSN (online) 1757-4684
ISSN 1757-4676
DOI 10.15252/emmm.201606660
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