Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients

Leila Aghili, Jasmine Foo, James DeGregori, Subhajyoti De

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Little is understood about the occurrence of somatic genomic alterations in normal tissues and their significance in the context of disease. Here, we identified potential somatic copy number alterations (pSCNAs) in apparently normal ovarian tissue and peripheral blood of 423 ovarian cancer patients. There were, on average, two to four pSCNAs per sample detectable at a tissue-level resolution, although some individuals had orders of magnitude more. Accordingly, we estimated the lower bound of the rate of pSCNAs per cell division. Older individuals and BRCA mutation carriers had more pSCNAs than others. pSCNAs significantly overlapped with Alu and G-quadruplexes, and the affected genes were enriched for signaling and regulation. Some of the amplification/deletion hotspots in pan-cancer genomes were hot spots of pSCNAs in normal tissues as well, suggesting that those regions might be inherently unstable. Prevalence of pSCNA in peripheral blood predicted survival, implying that mutations in normal tissues might have consequences for cancer patients.

Original languageEnglish (US)
Pages (from-to)1310-1319
Number of pages10
JournalCell reports
Volume7
Issue number4
DOIs
StatePublished - May 22 2014

Fingerprint Dive into the research topics of 'Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients'. Together they form a unique fingerprint.

Cite this