In the summer of 1993, when Elaine Taylor, a mother of three, was in the middle of pursuing a lifelong dream getting a college degree in English literature at the University of California, Berkeley she received some devastating news: she had advanced ovarian cancer and uterine cancer.
"All I knew, in July of 1993, was that I was 37-years-old and that it was quite likely I would not live to be 40," says Taylor, who has asked that a pseudonym be used to protect her family's identity. "The prognosis was not good. The statistics were not good, but I was way too young to die."
Taylor underwent 7.5 hours of surgery to remove two large tumors from her ovaries, all of her reproductive organs, cancerous lymph nodes in her abdomen and adhering to her abdominal aorta.
After surgery, during her recovery at home, before starting six months of chemotherapy, Taylor's older brother Jim came to visit. Taylor remembers that he said something puzzling, in a rather offhand way that would start her cancer detective work: "Everyone in our family gets cancer."
Taylor, who had not had any contact with her father or his family for many years, was shocked by the news. All she knew was that her father had died a few years earlier of colon cancer at age 59 and that his mother had died of cancer at the age of 40.
Though Taylor's brother, who had kept in touch with their father's family, knew of several cases of cancer in the family. He considered it "bad blood" and didn't know there was anything that could be done about it — like genetic screening and testing or preventive tests, such as a colonoscopy.
After finishing chemotherapy, Taylor's chances of having a recurrence of ovarian cancer were still high and her chances of living another five years were low. But she was determined to beat cancer and get to the bottom of her diagnosis.
"I felt full of life, and wanted more of it — I wasn't finished living yet. I felt that I had barely even started," says Taylor. "I didn't want to die young. I was determined to learn more about the cancer and to do everything I could to live as long as I could. And I was in a hurry."
Taylor visited UCSF's medical library, where she started a cancer research notebook — filled with extensive facts and figures about cancer — and learned about family cancer syndromes. Accounting for 5-10 percent of all cancers, these are genetic conditions that cause an increased risk for specific types of cancers.
Lynch Syndrome, also known as HNPCC (hereditary nonpolyposis colorectal cancer), is a type of family cancer syndrome that occurs when a person inherits a mutation in one of several different genes that increases their chance of developing colorectal and other kinds of cancers. The syndrome seemed to fit Taylor's own family's profile, though her doctors weren't convinced.
In order to determine if Taylor's family actually had Lynch Syndrome, she had to develop a pedigree chart, documenting her family's cancer history. Taylor began collecting names of her father's family and calling all living relatives. Eventually, she reached a first cousin who revealed a long history of family cancer, which Taylor showed on a pedigree chart, marking the names, ages and diagnoses of the people in her family tree.
"The chart was riddled with cancer — uterine, colon, kidney, ureter, small intestine — and I was apparently the first case of ovarian cancer," says Taylor, who indicated cancer on the chart with numerous black dots. "Practically everyone on my father's side of the family did get cancer. Indeed, my brother's comment was true. It was painfully obvious that this was hereditary."
Taylor took her pedigree chart to a genetic counselor in Oakland, Calif. who confirmed that it was highly likely that there was a hereditary syndrome in her family. And this meant that Taylor was at great risk for developing other types of cancers, particularly colon cancer. But the gene for Lynch Syndrome hadn't been found yet, and there wasn't a reliable test, so there wasn't a way to screen Taylor or her family.
Though five years later, Taylor spotted a small newspaper advertisement recruiting families with a high incidence of colon cancer for a clinical trial at UCSF Medical Center's Cancer Risk Program, a complete genetic counseling service for families with a history of cancer. Taylor visited the program where she met with genetic counselor, Peggy Conrad.
"Elaine was very determined and motivated to find out the cause of her cancer," says Conrad, who has remained in close contact with Taylor since her first visit to UCSF. "When she came to us, she had already documented all of the cancers in her family. This can be very hard for some people to face, though it is one of the most important steps in the process of cancer risk assessment and making a diagnosis."
During her first visit, Conrad told Taylor that it was now possible to test for Lynch Syndrome with a blood test as part of a clinical study. Soon afterwards, Taylor discovered that she had a defect in one of the genes associated with Lynch Syndrome -- MSH2.
"Even though I wasn't surprised, I still had a reaction to the news. I felt that I was a giant ball of risk — cancer risk," says Taylor, who has an 85 percent chance of developing colon cancer with MSH2. "I had this defect and it wasn't just me alone. It was going to touch everyone I loved and now I had to tell my family what to do."
Conrad sent an official letter to Taylor's relatives, notifying them of their cancer risk and how to best screen for cancers. And while Taylor's strategy had been to collect as much information as possible, many of her family members equated more information with more worry, refusing to face the possibility of cancer.
"After the letters went out, I felt both relief and dread," remembers Taylor. "Relief that I had fulfilled a responsibility to warn people and possibly — through early detection — to prevent someone from dying of cancer. But also dread; fear of what the information would stir up. And there was a more generalized anxiety, dealing with the genetic testing, the letters, the counseling. All of this stirred up a 'cancer panic' that I had just started to leave behind."
Though in many ways an uphill battle, Taylor's oldest two children — then 20 and 18-years-old — were told to consider genetic testing for the defect in MSH2 or begin cancer screening right away. Her middle child eventually decided to have genetic testing. She tested positive for the MSH2 gene and now follows the recommended cancer screening guidelines. Taylor's youngest child, now 19-years-old, was recently tested and is awaiting her results. Concerned about privacy and the possibility of discrimination, her eldest child has still not agreed to be tested.
It has been 13 years since Taylor's cancer diagnosis and she dutifully has her yearly screening tests for gastrointestinal, urologic and gynecologic cancers. "It all started because my brother said, 'Everyone in our family gets cancer,'" says Taylor. "Then, I had to do the research on my own. I had to teach my doctors and demand that they listen."
Story written in July 2006
Abby Sinnott is a freelance writer in San Francisco.
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