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Determining Genetic Risk of Ovarian Cancer

Ovarian Cancer
$12,278 raised
of $25,000 goal
Funding has ended
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About the Researcher

Elizabeth Swisher, M.D.
UW Medicine
Department of Obstetrics and Gynecology


Read Elizabeth's Story

Project Timeline:

Start:
In progress

Duration:
Less than 6 months

What your donation will fund:

  • $5,000 raised:
    Lab supplies to run 30 samples for genetic sequencing
  • $10,000 raised:
    60 samples
  • $15,000 raised:
    90 samples
  • $20,000 raised:
    120 samples
  • $25,000 raised:
    150 samples

Featured funders of this project include:

National Cancer Institute

Ovarian Cancer Research Foundation

Department of Defense Ovarian Cancer Research Program

Project donors:

  • Wendy McKennon
  • Blade Varian
  • Ryan Kelley
  • Anonymous
  • Merrily Finkelstein
  • Jessica McPeake
  • Anonymous
  • Anonymous
  • Charlie Henn
  • Rebecca Thompson
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  • Michael Rosenbluth
  • Anonymous
  • Anonymous
  • Monette Proffitt
  • Wendy Ciriegio
  • Jennifer Pfeifer
  • Stephen Cavanagh
  • Aron Jaffe
  • Cynthia Martensen
  • Beverly Hartley
  • Lorraine Bossert
  • Anonymous
  • Martha Hanrahan
  • Howard Keziah
  • Adil Lalani
  • Colin White
  • george flesuras
  • Anonymous
  • Trevor Biswas
  • Patricia Anderson
  • Tina Lieberman
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  • Kay Pullen
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  • Anonymous
  • Jessica Olifson
  • Wendy Golik
  • Stephen and Karen Osborne
  • Anonymous
  • alejandro kitzis
  • Gayle Runyan
  • margaret boyle
  • Elizabeth Stierhoff
  • Jennifer Van Alstyne
  • Andrew Osborne
  • Evelyn Crowder
  • Carol and Gene Horn
  • NW Industrial and Foundry Supply
  • Bonnie Fratis
  • Lindsay Mazotti
  • Barbara Miller
  • Elizabeth Lahti
  • Lindsay Englert
  • Nancy Abbott
  • Anonymous
  • Ben Rand
  • Lynne Kelley
  • marilyn goodman
  • John Merrill
  • Holly Johnson
  • jason busch
  • Farid and Lisa Yamin
  • Sean Tichenor
  • Robin Teater
  • Matthew Kohrs
  • Calle Emander
  • Alex Thielman
  • Ashley Gottlieb
  • Katie Lorenz
  • Katy Jakle
  • Anonymous
  • Sarah & Roger Friedel
  • Jenny Finley
  • Michael McShane
  • Jennifer Caleshu
  • Fardad Yamin
  • Shahab Hossaini
  • Anne & Matt Kelly
  • Barbara Hopkins
  • Anonymous
  • Anonymous
  • Lee Ritter
  • Lee Ritter
  • Tamera Billerbeck
  • Mary Dietsch
  • Anonymous
  • Jennifer Froistad
  • Marita Ghobrial
  • joe dressman
  • Sarah Barton
  • Joan Roman
  • Gradiva Couzin
  • Merrily Finkelstein
  • John Bossert/Rand
  • Randy and Roger Bossert/Rand
  • sharon couzin
  • Tory Galloway
  • Shelley Gardner
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  • Nicholas Kelley
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  • Kristen Lindquist
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Project abstract

Approximately 20,000 women per year are diagnosed with ovarian cancer  in the U.S.- the most deadly form of cancer affecting the female reproductive system. Its symptoms are similar to those of other common conditions, so most women are not diagnosed until the cancer has spread to other parts of the body. Given the late stage that most ovarian cancers are discovered, the best form of treatment is often prevention. Our research focuses on expanding genetic testing so that we can better predict which women are at risk of ovarian cancer and offer them successful, targeted prevention.
 
Using Genetic Testing to Gauge Risk
 
We have discovered that one-fourth of common ovarian cancers are hereditary. Inherited mutations of at least 16 genes put women at risk for developing the disease. Some researchers have argued that only women with serous ovarian cancers (approximately 60 percent of cases) should be offered genetic testing, but we disagree.
 
Our preliminary data indicates that genetic testing is just as useful in other ovarian cancers. The key is screening for more genes. We plan to use DNA sequencing technology to examine these less common types of ovarian cancer, including clear cell, endometrioid and carcinosarcomas. We will evaluate 45 genes in the blood and cancer tissue from 150 women with non-serous ovarian cancers. Understanding which genes are linked to which types of ovarian cancer will help us identify who is at risk as well as personalize prevention and treatment strategies.

More scientific details about this project 

Background/rationale
We have recently shown that 24 percent of ovarian, peritoneal and fallopian tube cancers are hereditary, including 18 percent with mutations in the BRCA1 and BRCA2 genes and an additional 6 percent with mutations in 14 or more other genes. Twenty-nine percent of all hereditary cases were caused by mutations in genes other than BRCA1 and BRCA2. Therefore, an understanding of the genetic contribution of ovarian cancer will require testing a large number of cancer susceptibility genes.
 
Our previous studies included few non-serous ovarian cancers and a large consortium effort (TCGA) to molecularly catalogue ovarian cancers evaluated only serous ovarian cancers. While serous ovarian cancer is the most common histology, it only accounts for 60–70 percent of cases. Endometrioid, clear cell and carcinosarcomas are less common histologies that, together, account for 20–25% percent of cases. To better treat and prevent these cancers, we need an improved understanding of the genetic landscape of non-serous ovarian, tubal and peritoneal carcinomas.
 
Objective
Identify somatic (tumor) and germline (inherited) mutations in 45 genes in 150 cases of endometrioid, clear cell and carcinosarcoma.
 
Methods
We will use targeted capture and massively parallel DNA sequencing on neoplastic and germline DNA from these 150 cases using Agilent SureSelect capture and an Illumina HiSeq genomic sequencer. All variants will be confirmed with Sanger sequencing. Sequencing analyses are performed with our in-house bioinformatics pipeline.
 
Anticipated Outcomes
We anticipate that the ratio of genes with inherited and somatic mutations will vary according to histology. These data will allow us to better understand the genetic contributions of non-serous ovarian cancer and therefore increase our ability to predict and prevent these deadly cancers.
 

Why is this important?

A better understanding of the genetic contribution of all types of ovarian cancer increases our ability to predict — and therefore prevent — ovarian cancer, thus saving lives.

Who will benefit from the results of this project?

Women with inherited risk of ovarian cancer will benefit from this research.

Elizabeth Swisher, M.D.

I always thought being a doctor meant helping patients deal with life-threatening events, so taking care of people with cancer has been my focus ever since I began my medical career.
 
Early on, I learned that prevention could be more powerful than treatment, so I was drawn to genetics in order to better understand who will develop cancer before it happens. I am devastated when I meet a new patient with ovarian cancer who has a clear inherited predisposition, because her cancer could have been predicted and prevented.
 
My goal is to empower women to learn about their risk of cancer and help them take the appropriate steps to reduce that risk.

Education & Training

Year Institution Degree Field
1999 Washington University Fellowship Gynecologic Oncology
1996 University of Washington Residency Obstetrics & Gynecology
1993 University of Washington Internship Obstetrics & Gynecology
1992 University of California, San Diego M.D. Medicine
1987 Yale University B.S.

Awards & Leadership

Year Award/Position
2012 Genome Advance of the Month, National Human Genome Research Institute
2010 Margaret Greenfield/Carmel Cohen, M.D. Excellence in Ovarian Cancer Research Prize, Gynecologic Cancer Foundation
2003 CREOG National Faculty Teaching Award
2002 Kimmel Scholar Award, Sidney Kimmel Foundation for Cancer Research
1997 J. G. Moore Award, Western Association of Gynecologic Oncologists
1997 SmithKline Beecham Educational Award
1996 Chief Resident Teaching Award, University of Washington
1995 J. G. Moore Award, Western Association of Gynecologic Oncologists
1992 University of California San Diego Award for Excellence in Obstetrics and Gynecology
1987 Cum Laude, Yale University

$10,000 results!

Dec 19, 2013

Thank you Consano donors and ovarian cancer research supporters!

You did it. We received $10,000 from Consano and went straight to work. We have analyzed 60 non serous ovarian cancers for 45 genes. We found that contrary to accepted dogma, non serous ovarian cancers are just as likely to be caused by inherited mutations in ovarian cancer genes as serous cancers. Some authors have advocated that genetic testing should be offered only to women with high grade serous ovarian cancer. This is wrong! Our data supports current recommendations to offer genetic testing to all women with invasive (i.e, not borderline) ovarian cancer.

And our results are exciting in demonstrating that BRCA1 and BRCA2 are not the only ovarian cancer genes. In fact, more than 1/4 of inherited risk is conferred by a whole slew of genes and non serous ovarian cancers have an even higher rate of mutations in non BRCA genes. Therefore, having BRCA1 and BRCA2 testing is not enough to rule out an inherited cause of ovarian cancer. Our group has helped to contribute to the development of cancer gene panels for clinical genetic testing. Any woman with ovarian cancer who is considering genetic testing, should ask for a comprehensive gene panel instead of the old BRCA1 and BRCA2 test. These gene panels are cheaper and more efficient than old fashioned testing. But insurance companies are dragging their feet and denying coverage of "next generation sequencing" panels. We need to generate more data to convince patients, physicians and insurers of the importance of comprehensive genetic testing with gene panels for all women with ovarian cancer. Only then can we break the cycle of hereditary cancer.

What is next?

-We are collaborating with researchers at the Mayo Clinic to analyze more non serous ovarian cancers.

-We are testing new genes that may be ovarian cancer genes.

-We are working with patient advocacy groups and professional societies to establish a new standard of care for genetic testing for ovarian cancer risk.

Join the cause. Every dollar helps and goes directly to research.

Thanks for your support and best wishes for 2014!

Liz

Elizabeth Swisher M.D.

 

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great editorial

May 30, 2013

Thought you might be interested in this great editorial published in the Seattle Times.

 

http://seattletimes.com/html/opinion/2021082615_tanasennopedxml.html

 

Nearly $10,000 raised. Fantastic. Keep spreading the word please and we will reach our goal in no time!

 

And if you are near Seattle, consider attending "Decoding Annie Parker" at the Seattle International Film Festival, in which Helen Hunt plays my longstanding mentor, colleague, and friend Mary-Claire King Ph.D. Annie Parker, the film director and Dr. King will all be in attendance and all proceeds from the Seattle showings will go to directly fund Dr. King's genetics research.

 

 

 

 

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Thank you Angelina Jolie!

May 14, 2013

Thank you Angelina Jolie! Your confidence and courage is inspiring and will no doubt help thousands of women face the same difficult decisions. Knowledge is power and understanding your genetic risk of cancer allowed you to take charge of your future and change your destiny. As a gynecologic oncologist and cancer genetics specialist, I am deeply saddened every time I take care of a woman fighting advanced ovarian cancer who is in that position because of a genetic risk inherited from her mother or father. Often there is a family history of cancer that should have alerted her medical providers to her cancer risk, which means that cancer could have been prevented. Wendy, Sharon, and Karen are just a few of my dear patients who died needlessly of hereditary ovarian cancer, and who inspire me every day to re-double my research and clinical efforts to identify genetic risk and prevent women’s cancers. We aim to provide every woman the power exercised by Angelina- to understand their personal cancer risk and make individual choices to minimize that risk.

Too many women have genetic testing only after a cancer is diagnosed. There are several reasons for that unfortunate delay. Not all women have a strong family history of cancer, even though they have an inherited risk. For example, some women have inherited their cancer risk from their dad, who is unlikely to have breast cancer and will certainly not get ovarian cancer. And even strong family histories of cancer may be overlooked by healthy women and their providers. The high cost of genetic testing for cancer risk is another obstacle. For instance, Medicare will only pay for cancer genetic testing after someone gets cancer, but not before.  That policy is counterintuitive when the goal of cancer genetic testing should be identifying risk in order to allow effective cancer prevention. Most insurance companies will not cover BRCA1 or BRCA2 testing for men. President Obama- your mother died of ovarian cancer and you should have testing to see if your girls could be at risk. But be prepared to pay cash.

You have probably heard about how much cheaper DNA sequencing has become in the last few years. We can already sequence all the human genes for a thousand dollars and articles abound that predict that whole genome DNA sequencing will become commonplace and facilitate personalized medicine. Then why is most cancer genetics testing done one gene at a time for many thousands of dollars? My colleague Mary-Claire King Ph.D. who discovered the BRCA1 gene in 1990, has been working with me and others to develop cancer gene panels that in a single blood test can sequence all the known cancer genes.  In my research, I have used Dr. King’s new test that she named BROCA to find the genetic cause of ovarian cancer in dozens of families. We have discovered that BRCA1 and BRCA2 are not the only ovarian and breast cancer genes, and another 15 genes account for about 30% of inherited ovarian cancer. We could test all of these genes at the same time in a single blood test including BRCA1 and BRCA2 at less than the current cost of the BRCA gene test in the U.S..

You might ask- if we can already do this type of genetic testing in a research setting, what is holding back a universal cancer gene test for patients?  The barrier is gene patents. One third of human genes are patented in the U.S. including BRCA1 and BRCA2. If Dr. King had won the race to publish the final BRCA1 sequence, I guarantee you that BRCA1 would not be patented today. The U.S. Supreme court has recently heard arguments from a lawsuit by the ACLU against Myriad Genetics, the company that holds the BRCA1 and BRCA2 patents. The court should rule next month on the legitimacy of these gene patents.  We already have the genetic tools to identify many women who are at risk before they get cancer and at a lower cost. Let’s hope that we can soon apply these tools rationally during clinical care to decrease the cancer burden in this country.

What can you do?

-Know your own family history. Ask your parents and grandparents about your family history, ask who had cancer, what kind of cancer (i.e where the cancer started not where it spread to) and at what age they were diagnosed. Share that information with your medical providers. If you are concerned about your cancer risk, ask for a referral to see a certified genetic counselor to talk about your family history.

-Protest the patenting of genes. Even if the Supreme Court does come out against the Myriad patents, it is likely to be a narrow ruling that will not apply to all gene patents. Join me in standing against patents of natural genes. Investigators that accept federal dollars for research should keep their discoveries in the public domain.

-Support medical research that increases our understanding of cancer, including how to recognize risk and tailor cancer prevention. Ask your congressman to support federally sponsored research such as the NIH and consider raising money and awareness for private cancer research foundations.

Let’s applaud Angelina Jolie. Dealing with cancer risk involves highly personal decisions. Here is a woman already in the public eye and under constant scrutiny who made an entirely selfless decision to share her story with millions.  Many high risk women like Angelina face criticism for their “drastic” choices to undergo preventive surgery. I admire Angelina for taking the unselfish view that she will do whatever it takes to be sure she will be around to parent her children. And I commend Angelina for making her decision public and thereby supporting other women who face an increased cancer risk.

 

 

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Apr 03, 2013

Thank you to everyone supporting this project. please spread the word. Together, we can reduce the number of women who get ovarian cancer each year. We have already raised enough money to make a difference in some women's lives. Go team!

 

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