A strong belief that no-one should face the challenge of hereditary cancer alone prompted Sue Friedman to set up FORCE -Facing Our Risk Of Cancer Empowered - a non-profit organization for the high-risk community

by Sue Freidman
Executive Director
FORCE

It seemed appropriate that I celebrated my fortieth birthday and my five-year anniversary of being cancer-free by sitting in an auditorium at the Smithsonian Institution listening to the research giants of the twentieth century talk about DNA.

The one-day symposium, Bringing the Genome to You, commemorated the 50th anniversary of the discovery of the structure of DNA and celebrated the sequencing of the entire human genome. The symposium highlighted DNA as the common thread that weaves through all life and links our genetic makeup from our ancestors to our progeny.

Superimposing the past, present and future of genetics, the symposium featured Dr. Francis Collins, current director of the National Human Genome Research Institute, who officially announced the completion of the Human Genome Project. 

Also present was Dr. James Watson, Nobel Award winning researcher and co-discoverer of the double helix form of DNA.  Watson’s fellow researcher and Nobel Prize winner, Sir Francis Crick, was interviewed on videotape reflecting on their achievement.

My interest in the celebration was both personal and professional.  I had been diagnosed with breast cancer at age 33 and, after genetic testing, learned that I carried a hereditary mutation or change in my DNA that predisposed me to cancer.  The genetic test that provided this information was one of the advancements made possible by the discovery of the structure of DNA and later by the sequencing of our genome known as the Human Genome Project.  

At the time of my diagnosis, I didn’t suspect that I was at high risk for cancer.  Like most women my age, I believed that if I lived well and took care of my body, it would be decades before I would have to worry about serious illness. Even after my diagnosis of breast cancer, my physicians never expressed any concern about my risk for future cancer.  None seemed to take note of the fact that I had been diagnosed with breast cancer at a young age, and that my paternal grandmother had died young of abdominal cancer. I never made any connection between my grandmother’s cancer and my own until I chanced upon an article in a journal eight months after my diagnosis. 

The article discussed the connection between hereditary breast cancer and ovarian cancer and also mentioned that certain populations, such as people of Eastern European Jewish descent, were at particularly high risk for carrying a genetic mutation which could cause both cancers.  It went on to describe the genetic test that could determine if someone carried one of these mutations.   I decided to have the test and learned that I had inherited one of the identified mutations in the cancer predisposition gene known as BRCA2.

In some ways I considered myself fortunate. Most cancer doesn’t have a known cause, yet I was able to learn why I was predisposed to cancer. Although I was devastated to learn I carried the mutation, I felt fortunate to have the opportunity to take proactive steps to reduce my risk for further breast cancer and for ovarian cancer.

My response to my diagnosis was to find and connect with others who shared this risk of hereditary cancer and create a community in which we could understand and support one another.  FORCE: Facing Our Risk of Cancer Empowered, a nonprofit organization for the high-risk community, grew out of my strong belief that no one should have to face the challenge of hereditary cancer risk alone.  I had been invited to the symposium as the director of FORCE, to represent our high-risk constituency and to share in the celebration of these scientific milestones that had made such an impact in our lives.  

Mentioned but missing at the symposium was Dr. Rosalind Franklin--the brilliant but often overlooked scientist whose x-ray photograph of the DNA molecule contributed substantially to Watson and Crick’s successful characterization of the structure of DNA.  While sitting in the audience, I reflected on Dr. Franklin’s role in the scientific achievements that marked this half-century of genetic research.  I decided to learn more about her, for I felt a debt of gratitude towards Franklin and the other scientists whose pioneering work laid the foundation for the genetic test that revealed my mutation.  

The more I learned about Franklin, the more I understood that the connection between us was stronger than I had initially imagined.  Franklin was of Eastern European Jewish descent and she, too, had a family history of cancer¹.  Like me, and my grandmother before me, Rosalind was diagnosed with cancer at a young age.  Like my grandmother, she died young of this dreaded disease.  Franklin was only 37 when she lost her battle with ovarian cancer.

Those of us with hereditary cancer represent about 7% of breast cancer patients and 10% of ovarian cancer patients.  In our population the disease tends to occur earlier, when women are less likely to be screened or when symptoms are less likely to raise an alarm, and thus our cancer may be advanced by the time it is diagnosed.  Our lifetime risk for either cancer is many times higher than the general population’s risk; and we are more likely to get multiple cases of cancer. 

Perhaps most ominously, our predisposition has implications for our children—both male and female—who may inherit the mutation from either parent and then pass it on to their children.  But those who learn about their heightened risk for cancer in time are able to take steps to lower these risks. Though it is still imperfect, increased surveillance beginning at an earlier age can sometimes find the disease at a more treatable stage. Other risk-reducing options like medication or surgery can be more invasive or life-altering, but can also save lives.

Genetic testing represents a paradox:  a reminder of our legacy of devastating disease but also the hope for a treatment or prevention that can finally break our chain of affliction. More and more research and medical care is focusing on assessing risk and on preventing and treating diseases using our genetic information for clues on how to best tailor care to the individual.  This is a welcome improvement over the one-size-fits-all approach to health care of the last half-century.

While we wait for the genomic age to deliver on its promise of more effective and less invasive options for prevention and treatment of cancer, we can focus on educating others about hereditary cancer and the technological tools available to us now. Dr. Rosalind Franklin did not get to benefit from the advances resulting from her contribution to science. Neither did my grandmother. But, just as I have benefited from the collective genius of Collins, Watson, Crick, Franklin and many other scientists; I know that future generations will benefit, too, from the continuation of the research that began with the discovery of the nature of one molecule….DNA. 

Hereditary Cancer

• Hereditary cancers are caused by a change (mutation) in certain genes that normally protect our body from developing cancer.
• Hereditary breast and ovarian cancer risk can be passed down from the mother or the father to a male or female child. Information about the family history of cancer on both sides of the family is important for assessing hereditary cancer risk.
• Experts believe that 5-10% of breast and ovarian cancer may be hereditary.
• Most breast and ovarian cancer is not considered hereditary; that means that a person can still get these cancers without a family history of cancer or a gene mutation.  

Genetic Testing

• The two genes most commonly associated with hereditary breast and ovarian cancer are BRCA1 and BRCA2. There are blood tests available to determine if a family carries a BRCA1 or BRCA2 gene change.
• Genetic counseling is an essential part of the genetic screening process. Referral to a health care provider trained in cancer genetics can help people decide if testing is right for them and can improve their understanding of the genetic testing process and of test results.
• Testing positive for one of these hereditary gene mutations does not mean a person will get cancer, but it does greatly increase the risk for developing breast and ovarian cancer in women. 

¹· Brenda Maddox; Rosalind Franklin, The Dark Lady of DNA; Harper Collins, New York, 2002

Cancer Risk

• A newly published article looked at the risk for breast and ovarian cancer in carriers with BRCA1 and BRCA2 mutations by combining data from 22 separate studies. The researchers concluded that the average lifetime risk (to age 70) for breast cancer in women with a BRCA1 mutation was around 65% and for ovarian cancer was around 39%.· The average lifetime risk (to age 70) for women with a BRCA2 mutation was calculated around 45% for breast cancer and 11% for ovarian cancer. The lifetime risk for breast and ovarian cancer in the general female population is approximately 12.5% and 1.5% respectively³.
• Men with· BRCA mutations face an increased risk for male breast cancer.  Men with BRCA mutations also have an increased risk for prostate cancer.⁴

Men and women with mutations may have a slightly increased risk for other cancers such as pancreatic cancer and cancers of the gastrointestinal tract. 4,⁵

1. Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program

Marcia S. Brose, et. al.Journal of the NCI, Vol. 94, No. 18, 1365-1372, September 18, 2002. 

There are surgical and non-surgical options available for lowering risk in those who carry an increased risk for cancer. Your health care team should discuss all the options available to you.

Resources:

• For information on finding a qualified genetic counselor go to:
• For support and information specific to hereditary breast and ovarian cancer syndromes log on to FORCE: Facing Our Risk of Cancer Empowered at: http://www.facingourrisk.org

2.  Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies A. Antoniou, et. al. Am J. Hum. Genet., 72: 1117-1130, 2003

3. Based on SEER Data from the National Cancer Institute

4. Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program
Marcia S. Brose, et. al. Journal of the NCI, Vol. 94, No. 18, 1365-1372, September 18, 2002.