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"The Answer Is In Our DNA" Update from Toronto
June 04, 2015

PROJECT UPDATE: 

June 4, 2015

‘The Answer Is In Our DNA’

 


McNamaraKateZCCMeetGreetWe recently caught up with
CCCF Research Fellow Kate McNamara and asked her to tell us why her work is important, worth the effort and worth your very generous support.  This is what she had to say.

 

“What I think about is a billboard hanging outside of Princess Margaret Cancer Centre that reads … 'The answer is in DNA'. You see … even cancers related to environmental exposures develop in the context of genetic susceptibility and genetic events. The science of analyzing the human genome is rapidly evolving and is allowing us to better understand cancer development and how to effectively screen and treat so as to save lives. Toronto and other elite cancer centers are pioneering this science but this is possible only with funding support and the efforts of clinicians, scientists, support staff, investors, and all persons contributing to the cause in any way.”

 

We couldn’t agree more and with your help we can fund Kate’s work for another successful year. To learn more about Kate and the incredible team at the Zane Cohen Centre for Digestive Diseases (ZCC) take a look at their spring newsletter. http://bit.ly/1KOVai6

 

 

 

 

Many of you were able to meet Kate personally at our Inaugural Early Age Onset –Colorectal Cancer (EAO-CRC) Summit held at Memorial Sloan Kettering Center this past March.  Kate gave the audience a glimpse into the world of Whole Genome Sequencing and her efforts to define novel genetic elements contributing to the incidence of EAO CRC.  For those of you who missed the Summit the video and slides are available on our website http://coloncancerchallenge.org/about-us/eao-crc-summit

 

Updates from Toronto:

 

Unfortunately, the initial attempt at exome sequencing in the early-onset cases was not successful. The sequencing data was very poor quality and so the process had to be repeated including library preparation, sequencing, and initial pipelines analysis. Such is research... The second attempt at germline DNA sequencing is complete and initial QC looks good. Preliminary data analysis should be complete by the end of next week.

 

In the interim, an interesting trio presented in clinic -- 13yo with CRC and consanguinous parents (first-degree cousins once removed). Separate exome sequencing was performed and we have done some preliminary analysis to search for rare variants that fit a recessive model of inheritance. There are a few candidate genes. We will evaluate these genes in the set of early-onset cases as soon as that data is available and will look in other Toronto CRC datasets. Much time is spent trying to research/learn bioinformatics tools available to interrogate sequencing data.

 

At the end of the month Kate will be traveling to the annual meeting of the American Society of Colon and Rectal Surgeons (ASCRS) in Boston, MA where she will give a poster presentation: 'Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease?'

 

In her presentation Kate presents a small case series of these unique patients, assess CRC incidence, and posit whether risk for CRC development is sufficiently increased in the setting of two important risk factors to warrant prophylactic colectomy. The case series is the largest reported to date. By traveling to the conference Kate has an exciting opportunity to present her findings and hear from leaders in this specialty area.  Kate has also written this into manuscript form and it is pending submission.

 

Stay tuned for regular updates on Kate’s work, progress and of course any breakthroughs.  For more information on our work focused on early age onset of colorectal cancer visit our website http://coloncancerchallenge.org




 
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