uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients
Show others and affiliations
2008 (English)In: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 47, no 8, 680-696 p.Article in journal (Refereed) Published
Abstract [en]

Breast carcinomas are characterized by DNA copy number alterations (CNAs) with biological and clinical significance. This explorative study integrated CNA, expression, and germline genotype data of 112 early-stage breast cancer patients. Recurrent CNAs differed substantially between tumor subtypes classified according to expression pattern. Deletion of 16q was overrepresented in Luminal A, and a predictor of good prognosis, both overall and for the nonluminal A subgroups. The deleted region most significantly associated with survival mapped to 16q22.2, harboring the genes TXNL4B and DXH38, whose expression was strongly correlated with the deletion. The area most frequently deleted resided on 16q23.1, 3.5 MB downstream of the area most significantly associated with survival, and included the tumor suppressor gene ADAMTS18 and the cell recognition gene CNTNAP4. Whole-genome association analysis identified germline single nucleotide polymorphisms (SNPs) and their corresponding haplotypes, residing on several different chromosomes, to be associated with deletion of 16q. The genes where these SNPs reside encode proteins involved in the extracellular matrix (CHST3 and SPOCK2), in regulation of the cell cycle (JMY, PTPRN2, and Cwf19L2) and chromosome stability (KPNB1).

Place, publisher, year, edition, pages
2008. Vol. 47, no 8, 680-696 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-16551DOI: 10.1002/gcc.20569ISI: 000256874100005PubMedID: 18398821OAI: oai:DiVA.org:uu-16551DiVA: diva2:44322
Available from: 2008-05-28 Created: 2008-05-28 Last updated: 2012-04-13Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Syvänen, Ann-Christine
By organisation
Molecular Medicine
In the same journal
Genes, Chromosomes and Cancer
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 144 hits
ReferencesLink to record
Permanent link

Direct link