OC Genetics in the News

A few days ago the results of a very large study was published. The study  by the Collaborative Oncological Gene-Environment Study (COGS) involved over 200,000 participants and hundreds of researchers from around the world. Here is a link to the overview article in Nature. It looked at the genetic markers for breast, prostate and ovarian cancer. The study was reported in 13 articles in 5 journals but I concentrated on finding just the ovarian report. 
  
I searched online and found the article "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer" in Nature Genetics. I looked through the researcher names and out popped Dr Lorna Rodriguez-Rodriguez. I was thrilled to read that one of my gynecologic oncologists at the Cancer Institute of New Jersey was involved in the research. I allowed my tumor to be studied for the clinical trial I participated in so I wonder if my tumor was part of this large genetic analysis.  I'll have to ask Dr R the next time I see her. 

In a nutshell the Genome Wide Association Study (GWAS) found 4 locations in the DNA that were susceptible for epithelial ovarian cancer. All of the locations were associated with the serous type of epithelial Ovarian Cancer ( EOC) . In the discussion of the results the researchers report: 
"Molecular analyses of genes at these loci ( Location of a gene), combining publicly available data sets and systematic, large-scale experiments, point to a small number of candidate gene targets that may have a role in EOC initiation and development. However, the effects of the new susceptibility loci were modest, and together they explain less than 1% of the excess familial risk of EOC, with about 4% being explained by all known loci with common susceptibility alleles. " (An allele is one of two versions of a  gene.)

"Fewer common susceptibility loci have now been found for EOC than for several other common cancers, including breast, colorectal and prostate cancers²⁸. It seems unlikely that the underlying genetic architecture for EOC susceptibility is substantially different from those of other cancers. This suggests that a key factor limiting our ability to detect susceptibility loci is sample size—the power of this study to detect risk alleles across a range of effect sizes was modest (Supplementary Fig. 12). However, EOC is less common than these other cancers and has a higher mortality rate, and recruiting extremely high numbers of cases will be difficult."

The more tumor samples researchers can examine  the more we can learn about how epithelial ovarian cancer develops. Now is the time for more women with all types of ovarian cancer to allow their tumor cells be used for studies like this one. 

I've given my tumor tissue to research . Will you?

Dee
Every Day is a Blessing  

Interview with Dr Goli Samimi ~ Ovarian Cancer Researcher

About two weeks ago I read an article on the news.com.au site entitled "Ovarian Test is Close:Researchers". The research of Dr Goli Samimi a researcher in Australia was mentioned in the article and I was interested in learning more about the DNA blood test she was developing. I searched online and found her page on the Garvan Institute of Medical Research site which is located in Australia. So after a bit of thought and a nudge by a friend I decided to e-mail Dr. Samimi and ask her if she would answer a few questions about her research for this blog. She responded to me and said she would be happy to discuss her line of research. 

I am happy to share with you Dr Samimi's responses to my interview questions. 

1.  You are currently associated with the Garvan Institute of Medical Research in Australia. What is your medical background and how did your interest in ovarian cancer research begin?

I’m not a medical doctor—I received my PhD from the University of California, San Diego in 2004. My thesis involved studying why ovarian cancer cells become resistant to chemotherapy. I then did my post-doctoral fellowship at the National Cancer Institute, NIH in Bethesda, MD. My post-doc research involved studying ovarian tumors to find new therapeutic targets.

2.  In the recent online article “Ovarian Cancer Test is Closer: Researchers” it mentioned identifying specific biological changes in DNA of women with ovarian cancer. Does your research use blood samples, tumor samples or cell lines?

Our research uses blood samples to identify DNA changes, because the hope is to develop a non-invasive test (such as a blood test) that can be used to determine which women may have early stage cancer. Once we have identified some of these changes, we will check to see if they are also present in the corresponding tumor.

3.  Please describe in layman’s terms the methods you are using to conduct your research.

We collect blood from patients or healthy volunteers. We then separate the plasma and use a commercial kit to isolate the DNA that is present in the blood. We then use another commercial kit to enrich the DNA for regions that are methylated—this is a biochemical alteration in the DNA that happens during the development of cancer. We then subject the DNA to sequencing to compare which regions are methylated in cancer versus healthy subjects. Once we get a list, we need to confirm these regions in a larger sample before it could be applied to the public. We are looking at 5-10 years down the line.

4.  What DNA changes are you looking for? Insertions, deletions, mutations?

DNA methylation is considered an epigenetic alteration, which means a change in the structure of DNA, rather than the actual sequence.

5.  How does your line of research differ from others developing early detection tests?

We are the first who are applying whole-genome sequencing to methylated DNA from blood. Most are focusing on proteins (like CA-125) or specific DNA sequences.

6.  Do you see this test being used in the general population, with women at risk for ovarian cancer or those exhibiting symptoms of the disease?

Because of the relative rarity of ovarian cancer, it’s difficult to apply these kinds of tests to the general population as you would need essentially 100% accuracy for it to be helpful. So we intend to apply this test to women at risk, so women with a family history of breast or ovarian cancer.

7.  When will your test be ready for clinical trial? What issues do you see in developing this method for widespread use?

Because the analysis of whole genomes takes some time, and the results have to be validated in larger samples before being applied in a trial, we are aiming for 5-10 years down the road.

8.  Will the cost of this test be in line with other detection tests, such as the CA-125?

Good question, I actually don’t know the answer to this. I guess it would depend on who markets it and how many women it can be applied to.

9.  What do you see in the future for women diagnosed with ovarian cancer?

We know that women who are diagnosed early have a very high survival rate (80% 5-year survival). They usually undergo surgery and may not even need chemotherapy treatment. So if we can improve early detection, we can improve the survival rate and quality of life of women diagnosed with ovarian cancer.

10. Is there anything else you would want women to know about your test for ovarian cancer?  

We still have some time before our test or others will be developed or applied, so in the meantime listen to your body and make sure to have regular check-ups.

Thank you Dr Samimi for taking time to answer these questions and all your efforts to find a early detection test for ovarian cancer. 


Dee
Every Day is a Blessing!  

#7 HAWMC Health Activist Choice- OC Research News

  #7 HAWMC Health  Activist  Choice!  Write  about  what  you  want  today.

I've been waiting for a prompt like this. I think I might have to post two entries some days- those part of the HAWMC and those about OC news / events or general survivorship issues.

It has been a busy week ( the AACR annual meeting was taking place)  and a number of different Ovarian Studies were being presented and discussed online. Because of the holiday weekend ( Happy Easter / Happy Passover) I will not provide in depth commentary on these interesting links to research.

DNA Markers May Predict the Success of Ovarian Cancer Treatments
http://www.medicalnewstoday.com/releases/243748.php
It is all about microRNAs.

Height and Ovarian Cancer 
http://www.cbsnews.com/8301-504763_162-57409545-10391704/study-taller-women-may-be-at-higher-risk-for-ovarian-cancer/
Retrospective study - taller women greater risk of OC also found higher BMI greater risk.
I am 5'2".

Genetics Set Analysis may be Keys to Surviving Ovarian Cancer 
http://www.medicalnewstoday.com/releases/242596.php
Immune suppressant FKBP65 has also been found to be inversely associated with the expression of tumor suppressor gene P53. 


PARP inhibitor slows Ovarian Cancer 
http://www.medpagetoday.com/MeetingCoverage/SGO/31869?utm_content=&utm_medium=email&utm_campaign=DailyHeadlines&utm_source=WC&eun=g323472d0r&userid=323472&email=womenofteal@gmail.com&mu_id=5317600
Problem - AstroZenaca no longer produces this inhibitor. 

Of course there are also other topics being discuss that impact patients.
Here is one I found especially interesting. - Complex choices require shared decisions
http://www.usatoday.com/news/opinion/forum/story/2012-04-01/doctor-patient-decision-making-choice/53933086/1
I am glad that my doctor and I discuss treatments and agree with the steps going forward.


Dee
Every Day is a Blessing!