Mutation Evolution in Lobular Breast Cancer (11/4/09)
This is a great study to read! Access it at http://www.nature.com/nature/journal/v461/n7265/full/nature08489.html
Shah, SP et al.(2009) Mutational evolution in a lobular breast tumour profiled at single nucleotide resolutionNature 461, 809-813.
I am attaching the TAKE HOME message and Commentary from Axel Grothey, MD
Supplementary editorial provided by OncologySTAT
TAKE-HOME MESSAGE
In this study, Shah et al revealed the evolutionary nature of the tumor genome during progression of a low-intermediate grade, estrogen-receptor?positive lobular breast cancer. Sequencing of tumor genomes and transcriptomes from the same patient was used to compare genomic changes that occurred over a 9-year period during which the tumor had metastasized.
Of the 32 nonsynonymous coding mutations found in metastatic cells, 19 were not present in the primary tumor DNA at diagnosis. In contrast, 11 of the 32 mutations were present in the primary tumor, signifying that the primary tumor itself exhibited genetic heterogeneity. Validation of 75 RNA editing events yielded 2 high-frequency nonsynonymous mutations located within the COG3 and SRP9 genes.
The results revealed that, not only was the primary tumor genetically heterogeneous, but also that a significant amount of genetic evolution had occurred during progression. Tumor protein translation was altered, as evidenced by changes in the DNA sequence and by modifications of RNA transcripts. It is unclear whether these changes were a consequence of radiotherapy or of tumor progression.
EXPERT COMMENTARY
Axel Grothey, MD, Associate Editor
Genetic instability, one of the hallmarks of cancer, not only leads to tumor cell heterogeneity, but it also contributes to various aspects of the malignant phenotype of cancer cells, as well as to the resistance of cancer cells to tumor-directed therapy. Differences in genetic markers and gene expression between primary tumors and metastases have previously been confirmed for specific genes and proteins, but genetic differences have not been determined on a genome-wide level due to technical limitations. As exemplified by the study conducted by Shah et al, the ability to sequence whole genomes of tumors within a short time frame allows us to obtain a better understanding of genetic factors that drive tumor biology in individual patients. Success in this area of research ultimately promises to open the door for the utmost individualization of therapeutic approaches in cancer.
Nominate someone for Genetic Alliance Award (10/26/09)
2010 Genetic Alliance Annual Conference
Advancing Novel Partnerships
July 16-18, 2010 | Washington, DC Metropolitan Area
Call for Award Nominations
Do you know a healthcare professional who deserves recognition for all he/she has done?
Have you been interviewed by, or read a wonderful piece by a creative journalist who furthers public understanding of genetics and/or disease?
Have you worked with a company that embodies meaningful collaboration?
Then, nominate them for a Genetic Alliance Award Today!
Deadline for Nominations: November 2, 2009
For more information and to complete a nomination form, please visit http://geneticalliance.org/ws_display.asp?filter=conference2010.awards.
If you have any questions, please contact Tetyana Murza at tmurza@geneticalliance.org or 202-966-5557 ext. 205. To view videos of 2009 Award recipients visit our YouTube channel at http://www.youtube.com/geneticalliance.
See article in CJON on mTOR pathway (10/14/09)
Congratulations to our SIG's newsletter editor, Nancy Gardner, on her recent publication in the October issue of CJON titled "Targeting the mTOR Pathway in Neuroendocrine Tumors". Great job!
Aspirin Found to Prevent Cancer in Lynch Syndrome (10/13/09)
Article posted on OncologySTAT
http://www.oncologystat.com/news-and-viewpoints/news/Aspirin_Found_to_Prevent_Cancer_in_Lynch_Syndrome_US.html
Elsevier Global Medical News. 2009 Oct 6, P Wendling
Family History Month is Coming! (10/13/09)
See YouTube ad from Genetic Alliance.
http://www.youtube.com/user/geneticalliance#p/u/12/wDcn6qtsgJg
|
On this SIG Virtual Community page, you will find information pertaining the Cancer Genetics SIG. Here, you can view a myriad of resources, download and complete pertinent documents, join in our discussions and much more. Welcome to our Cancer Genetics SIG Virtual Community.
