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Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

Overview of attention for article published in Journal of Translational Medicine, January 2016
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Title
Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations
Published in
Journal of Translational Medicine, January 2016
DOI 10.1186/s12967-016-0778-z
Pubmed ID
Authors

Massimiliano Cocca, Davide Bedognetti, Martina La Bianca, Paolo Gasparini, Giorgia Girotto

Abstract

Breast cancer is the most common cancer in women characterized by a high variable clinical outcome among individuals treated with equivalent regimens and novel targeted therapies. In this study, we performed a population based approach intersecting high-throughput genotype data from Friuli Venezia Giulia (FVG) isolated populations with publically available pharmacogenomics information to estimate the frequency of genotypes correlated with responsiveness to breast cancer treatment thus improving the clinical management of this disease in an efficient and cost effective way. A list of 80 variants reported to be related to the efficacy or toxicity of breast cancer drugs was obtained from PharmGKB database. Fourty-one were present in FVG, 1000G European (EUR) and ExAC (Non Finnish European) databases. Their frequency was extracted using PLINK software and the differences tested by Fisher's exact test. Statistical analyses revealed that 13 out of the 41 (32 %) variants were significantly different in frequency in our sample as compared to the EUR/ExAC cohorts. For nine variants the available level of evidence (LOE) included polymorphisms related to cyclophosphamide, tamoxifen, doxorubicin, fluorpyrimidine and paclitaxel. In particular, for trastuzumab two variants were detected: (1) rs1801274-G within FCGR2A and associated with decreased efficacy (LOE 2B); (2) rs1136201-G located within ERBB2 and associated with increased toxicity (LOE 3). Both these two variants were underrepresented in the FVG population compared to EUR/ExAC population thus suggesting a high therapeutic index of this drug in our population. Moreover, as regards fluoropyrimidines, the frequency of two polymorphisms within the DPYD gene associated with drug toxicity (e.g., rs2297595-C allele and rs3918290-T allele, LOE 2A and 1, respectively) was extremely low in FVG population thus suggesting that a larger number of FVG patients could benefit from full dosage of fluoropyrimidine therapy. All these findings increase the overall knowledge on the prevalence of specific variants related with breast cancer treatment responsiveness in FVG population and highlight the importance of assessing gene polymorphisms related with cancer medications in isolated communities.

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The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 74 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 1%
Unknown 73 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 18%
Student > Master 11 15%
Student > Ph. D. Student 8 11%
Student > Doctoral Student 6 8%
Student > Bachelor 3 4%
Other 10 14%
Unknown 23 31%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 22%
Medicine and Dentistry 12 16%
Pharmacology, Toxicology and Pharmaceutical Science 5 7%
Economics, Econometrics and Finance 4 5%
Agricultural and Biological Sciences 3 4%
Other 11 15%
Unknown 23 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 January 2016.
All research outputs
#14,245,321
of 22,840,638 outputs
Outputs from Journal of Translational Medicine
#1,783
of 3,995 outputs
Outputs of similar age
#207,006
of 395,188 outputs
Outputs of similar age from Journal of Translational Medicine
#27
of 72 outputs
Altmetric has tracked 22,840,638 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,995 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.5. This one has gotten more attention than average, scoring higher than 50% of its peers.
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We're also able to compare this research output to 72 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.