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·인용수 127
·2017
Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function <i>ERF</i> Mutations
Franklin W. Huang, Juan Miguel Mosquera, Andrea Garofalo, Coyin Oh, Maria B. Baco, Ali Amin‐Mansour, Bokang Rabasha, Samira Bahl, Stephanie A. Mullane, Brian D. Robinson, Saud H. AlDubayan, Francesca Khani, Beerinder Karir, Eejung Kim, Jeremy Chimene-Weiss, Matan Hofree, Alessandro Romanel, Joseph R. Osborne, Jong Wook Kim, Gissou Azabdaftari, Anna Woloszynska‐Read, Karen S. Sfanos, Angelo M. De Marzo, Francesca Demichelis, Stacey Gabriel, Eliezer M. Van Allen, Jill P. Mesirov, Pablo Tamayo, Mark A. Rubin, Isaac J. Powell, Levi A. Garraway
IF 33.3Cancer Discovery
초록

African-American men have the highest incidence of and mortality from prostate cancer. Whether a biological basis exists for this disparity remains unclear. Exome sequencing (<i>n</i> = 102) and targeted validation (<i>n</i> = 90) of localized primary hormone-naïve prostate cancer in African-American men identified several gene mutations not previously observed in this context, including recurrent loss-of-function mutations in <i>ERF</i>, an ETS transcriptional repressor, in 5% of cases. Analysis of existing prostate cancer cohorts revealed <i>ERF</i> deletions in 3% of primary prostate cancers and mutations or deletions in <i>ERF</i> in 3% to 5% of lethal castration-resistant prostate cancers. Knockdown of <i>ERF</i> confers increased anchorage-independent growth and generates a gene expression signature associated with oncogenic ETS activation and androgen signaling. Together, these results suggest that <i>ERF</i> is a prostate cancer tumor-suppressor gene. More generally, our findings support the application of systematic cancer genomic characterization in settings of broader ancestral diversity to enhance discovery and, eventually, therapeutic applications.<b>Significance:</b> Systematic genomic sequencing of prostate cancer in African-American men revealed new insights into prostate cancer, including the identification of <i>ERF</i> as a prostate cancer gene; somatic copy-number alteration differences; and uncommon <i>PIK3CA</i> and <i>PTEN</i> alterations. This study highlights the importance of inclusion of underrepresented minorities in cancer sequencing studies. <i>Cancer Discov; 7(9); 973-83. ©2017 AACR.</i><i>This article is highlighted in the In This Issue feature, p. 920</i>.

키워드
Prostate cancerExome sequencingPTENCancerBiologyChromoplexyCancer researchExomeGermline mutationGene
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article
IF / 인용수
33.3 / 127
게재 연도
2017