Microsatellite genotyping reveals a signature in breast cancer exomes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-05-17

AUTHORS

L. J. McIver, N. C. Fonville, E. Karunasena, H. R. Garner

ABSTRACT

Genomic instability at microsatellite loci is a hallmark of many cancers, including breast cancer. However, much of the genomic variation and many of the hereditary components responsible for breast cancer remain undetected. We hypothesized that variation at microsatellites could provide additional genomic markers for breast cancer risk assessment. A total of 1,345 germline and tumor DNA samples from individuals diagnosed with breast cancer, exome sequenced as part of The Cancer Genome Atlas, were analyzed for microsatellite variation. The comparison group for our analysis, representing healthy individuals, consisted of 249 females which were exome sequenced as part of the 1,000 Genomes Project. We applied our microsatellite-based genotyping pipeline to identify 55 microsatellite loci that can distinguish between the germline of individuals diagnosed with breast cancer and healthy individuals with a sensitivity of 88.4 % and a specificity of 77.1 %. Further, we identified additional microsatellite loci that are potentially useful for distinguishing between breast cancer subtypes, revealing a possible fifth subtype. These findings are of clinical interest as possible risk diagnostics and reveal genes that may be of potential therapeutic value, including genes previously not associated with breast cancer. More... »

PAGES

791-798

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-014-2908-8

DOI

http://dx.doi.org/10.1007/s10549-014-2908-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035928906

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24838940


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