That you Heather for you input.
We will review it as soon as possible.
Elena

From: "Estrella, Heather" 
<[email protected]<mailto:[email protected]>>
Date: Tue, 22 Mar 2011 11:49:38 -0400
To: Jianxin Wang <[email protected]<mailto:[email protected]>>, 
Microsoft Office User 
<[email protected]<mailto:[email protected]>>, 
"[email protected]<mailto:[email protected]>" 
<[email protected]<mailto:[email protected]>>
Subject: RE: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US)dataset 
reference

Hi Jason,

The 90 additional samples only looked for mutations in a subset of 39 genes 
identified in the original 24 samples. The n=114 should only apply to the 
frequency calculations for those 39 genes.

I couldn’t find in their publication or supplementary material an exact list of 
the 39 genes, but based on the article, they would be a subset of the ~80 genes 
reported in Supplementary table 7. Through process of elimination, an example 
would be CTAG2. You’ll have to contact the authors to determine exactly what 39 
genes were measured across all 114 samples.

(http://dcc.icgc.org/martreport/?report=gene_report&ensembl_gene_id=ENSG00000126890&datasets=hsapiens_gene_ensembl_tcgaBRCA)

Thanks,
Heather

From: Jianxin Wang [mailto:[email protected]]
Sent: Monday, March 21, 2011 12:52 PM
To: Estrella, Heather; Elena Rivkin; [email protected]<mailto:[email protected]>
Subject: RE: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US)dataset 
reference

Heather,

I’m not sure what you mean by saying “some of the genes were only tested in the 
24 samples”. Can you clarify?

Jason

________________________________
From: Estrella, Heather [mailto:[email protected]]
Sent: Monday, March 21, 2011 1:33 PM
To: Jianxin Wang; Elena Rivkin; [email protected]<mailto:[email protected]>
Subject: RE: [BioMart Users] ICGC BioMart: Pancreatic Cancer(JHU/US)dataset 
reference

Thanks Jason,

It’s misleading how Biomart reports some of the mutation frequencies as some of 
the genes were only tested in the 24 samples and not the full 114 so the 
frequency reported (x/114) is much less than the actual x/24 for that data set.

Thanks,
Heather

From: Jianxin Wang [mailto:[email protected]]
Sent: Monday, March 21, 2011 9:44 AM
To: Estrella, Heather; Elena Rivkin; [email protected]<mailto:[email protected]>
Subject: RE: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US)dataset 
reference

Heather,


Yes, the 114 samples are from their “discovery” studies (24 samples) and 
“prevalence” studies (the rest of them).

Jason

________________________________
From:[email protected]<mailto:[email protected]> 
[mailto:[email protected]] On Behalf Of Estrella, Heather
Sent: Monday, March 21, 2011 11:38 AM
To: Elena Rivkin; [email protected]<mailto:[email protected]>
Subject: Re: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US) dataset 
reference

Thanks Elena,

That’s the reference I was thinking the data was probably from. The total 
number of samples used for genetic analysis in this study was 24 not 114. Can 
you please look into correcting the summary stats so that the correct frequency 
is reported for mutations?

In looking at the sample names for this study in BioMart, itlooks like 
additional studies were added to the BioMart dataset. Maybe that’s where the 
n-114 came from. However, that messes up the frequencies as not all the genes 
were tested in all 114 samples.

Many thanks,
Heather

From: Elena Rivkin[mailto:[email protected]]
Sent: Monday, March 21, 2011 9:14 AM
To: Estrella, Heather; [email protected]<mailto:[email protected]>
Subject: Re: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US) dataset 
reference

Heather,
These data were derived from the following publication:


Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic 
Analyses



Siân Jones1,* et al.



Science. 2008 September 26; 321(5897): 1801–1806. doi:10.1126/science.1164368.



Elena





From: "Estrella, Heather" 
<[email protected]<mailto:[email protected]>>
Date: Mon, 21 Mar 2011 12:08:21 -0400
To: "[email protected]<mailto:[email protected]>" 
<[email protected]<mailto:[email protected]>>
Subject: [BioMart Users] ICGC BioMart: Pancreatic Cancer (JHU/US) dataset 
reference


Hi,

In looking at the mutation frequencies reported for the Pancreatic Cancer 
(JHU/US) dataset, it reports the frequencies out of n=114. Can you please send 
me the reference to the source data behind what’s reported for “Pancreatic 
Cancer (JHU/US)”?

Thanks,

Heather
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