Change search
ReferencesLink to record
Permanent link

Direct link
Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues
Show others and affiliations
2013 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 34, no 4, 610-618 p.Article in journal (Refereed) Published
Abstract [en]

To examine the significance of intratumor genetic heterogeneity (ITGH) of the androgen receptor (AR) gene in breast cancer, patient-matched samples of laser capture microdissected breast tumor cells, adjacent normal breast epithelia cells, and peripheral blood leukocytes were sequenced using a novel next generation sequencing protocol. This protocol measured the frequency of distribution of a variable AR CAG repeat length, a functional polymorphism associated with breast cancer risk. All samples exhibited some degree of ITGH with up to 30 CAG repeat length variants identified. Each type of tissue exhibited a different distribution profile of CAG repeat lengths with substantial differences in the frequencies of zero and 1825 CAG AR variants. Tissue differences in the frequency of ARs with each of these CAG repeat lengths were significant as measured by paired, twin t-tests. These results suggest that preferential selection of 1825 CAG repeat length variants in breast tumors may be associated with breast cancer, and support the observation that shorter CAG repeats may protect against breast cancer. They also suggest that merely identifying variant genes will be insufficient to determine the critical mutational events of oncogenesis, which will require measuring the frequency of distribution of mutations within cancerous and matching normal tissues.

Place, publisher, year, edition, pages
2013. Vol. 34, no 4, 610-618 p.
Keyword [en]
Androgen receptor, Breast cancer, CAG repeat, Intratumor genetic heterogeneity
National Category
URN: urn:nbn:se:kth:diva-146833DOI: 10.1002/humu.22287ISI: 000316629000011PubMedID: 23377847ScopusID: 2-s2.0-84875494277OAI: diva2:725523

QC 20140616

Available from: 2014-06-16 Created: 2014-06-16 Last updated: 2014-06-16Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMedScopus

Search in DiVA

By author/editor
Babrzadeh, Farbod
In the same journal
Human Mutation

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: 43 hits
ReferencesLink to record
Permanent link

Direct link