Ovarian Cancer Tumor Marker Blood Test for Early Detection

Abhijit Patel, MD, PhD & Alessandro Santin, MD

Abhijit Patel, MD, PhD & Alessandro Santin, MD

About Project

Early detection of ovarian cancer via analysis of genomic alterations in DNA and RNA from multiple sources in blood


Most attempts to develop blood tests for ovarian cancer screening have largely focused on the detection of tumor-derived proteins in the blood. This approach has met with limited success, because the levels of these proteins can also be quite high in the blood of people who do not have cancer. In contrast, small fragments of DNA and RNA that leach into the blood from dying tumor cells are extremely cancer specific. Drs. Patel and Santin have developed a blood test that can measure these tiny amounts of DNA, which contain cancer linked mutations and are found only in the blood of people with tumors. Now, they have expanded the technique so they can develop mutant RNA as well. RNA is a more fragile molecule than DNA, so it is harder to detect, but it is present in larger quantities. By measuring both mutant RNA and DNA fragments, Patel and Santin hope to enhance their probability of detecting these molecules from the blood of women harboring small, early-stage ovarian tumors.


Q: How would you explain the broader significance of your research to a layperson?
A: We strongly believe that one of the most effective ways to reduce ovarian cancer deaths is to detect it early. Unfortunately, because the symptoms of ovarian cancer are so vague, it is typically discovered at a late stage when cure is more difficult to achieve. So our efforts are focused on developing a blood test that is capable of detecting fragments of tumor DNA that are shed into the bloodstream. By looking for genetic signatures in the blood that are unique to tumors and would be extremely uncommon in healthy individuals, we hope to contribute to the development of a highly specific blood test that could be used to screen for ovarian cancer.

Q: What is the job of a scientific medical researcher on a day to day basis? For example, what did you do this morning?
A: I spent much of this morning discussing results of an experiment with one of my students, and planning the next steps for her project. This is one of the aspects that I enjoy most about my job: having the opportunity to work with like-minded people to come up with innovative ways to solve scientific puzzles. Of course, much of my day is spent in front of the computer, writing grants and papers, so I rarely get the opportunity to perform experiments at the bench myself anymore. But I very much enjoy thinking about science and really delving into the experimental details, so I try to prioritize scientific discussions with my students and postdocs.

Q: Do you feel that Tina’s Wish is a unique organization? What sets it apart?
A: My lab’s research has been supported by Tina’s Wish for several years, so I feel that I have gotten to know the organization quite well. What I think sets it apart is the incredible passion for the cause that I have seen amongst the members of the board. In addition to their fundraising efforts, they are also very involved in facilitating exchange of scientific ideas amongst the grantees to maximize the progress and impact of the research.

Q: Have you formed any valuable or interesting relationships through Tina’s Wish?
A: I have attended several symposia and fundraising events organized by Tina’s Wish, and I am also participating in a collaborative research project supported by the Kirpalani Consortium Grant. Through these activities, I have gotten to know the other grantees as well as the board members quite well. Because we all share the same ultimate goal, these relationships have been extremely helpful in accelerating our research.

Q: Have you been personally affected by ovarian cancer?
A: My best friend’s mother died from ovarian cancer when I was in graduate school. I knew her very well, and it was so tragic to watch her decline. Her favorite oncologist was at Yale, so she would come and stay in my apartment a few times each year for medical appointments. I saw firsthand, this formidable and very stoic Russian woman reduced to almost half of her original weight as the disease progressed and as the nausea from chemotherapy took away her appetite. Sadly, her story like those of so many other women with ovarian cancer, started with vague abdominal symptoms that only lead to a diagnosis after several months, by which time the disease had already spread throughout her abdomen.

Q: What do you do when you are not working?
A: I have two young children, ages 4 and 7. When I am not working, I am enjoying my time with them, whether it’s riding bikes on our street or taking them to skating lessons. As any parent with kids of this age will tell you, half of our weekends are spent at birthday parties!

Q: Where is the last interesting place that you visited?
A: Last year we visited the Thar Desert in India where we camped overnight and rode camels before dawn to get to a vantage point from where we could see the sun rise over the dunes. It wasn’t an easy trip to do with young children, but we will never forget it.

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