Pancreatic cancer foundation

"If I had not had kidney stones," says Linda B., "I probably wouldn't be alive today."

While certainly no one is usually grateful for kidney stones, Linda is now because the painful problem led to the discovery of a much more life-threatening condition. In 1998 during a CT scan prior to treatment for kidney stones, radiologists noted a suspicious growth located on the head of her pancreas. Her doctor dismissed the incidental finding, assuring Linda that it was nothing to worry about, perhaps a birth defect.

"He told me to go home and enjoy life," she recalls. "But as the days went by, I just didn't feel comfortable with his diagnosis."

The young Delaware mother had good reason to be alarmed.

"Although I was not having any symptoms of the disease, my mother died from pancreatic cancer about a month before that," she told the Post. "And she had two siblings--a brother and sister--as well as an uncle and nephew die from the disease. In all, seven members of my family; including myself, have had pancreatic cancer--six of them are dead. And my brother and uncle were recently diagnosed with pancreatitis, another risk factor for the disease."

She sought a second opinion at Johns Hopkins, one of the country's leading centers of pancreatic treatment and research. There, gastroenterologist Dr. Marcia Canto performed a procedure frequently used to aid in the diagnosis of pancreatic cancer called an ERCP, which revealed a tumor on the head of her pancreas.

"If I had went by the Delaware doctor's diagnosis," she now says, "I would be dead."

Fortunately, the disease was detected at an early and operable stage, and in 1998, Linda underwent a Whipple procedure, followed by chemotherapy and radiation. Today, she is alive and healthy--one of the fortunate few to survive the deadly disease.

Grateful for her survival, Linda's battle against the disease took a new turn. To help her children and future generations, Linda and her family volunteered to join hundreds of other families participating in the Johns Hopkins National Familial Pancreas Tumor Registry.

"My main goal in participating in this genetic research project is to help my children and my children's children, as well as everyone else," she says. "That is why I was so persistent with my family to participate in this study. The quicker they can focus on pancreatic cancer, the sooner they can come up with a treatment that will help everyone."

Although relatively rare--with about 29,000 individuals diagnosed each year and about the same number dying annually of the disease--pancreatic cancer is one of the most deadly forms of cancer. Researchers hope that by studying families like Linda's and former President Jimmy Carter's (which lost four members to the disease), a common thread may emerge to help explain the cause and molecular biology of cancer. Families with genetic predisposition to diseases such as pancreatic cancer provide invaluable clues for researchers because they share the same genes, as well as similar environments, diets, and lifestyles. By locating the genetics at work in high-risk families, scientists can better understand the cause and biology of pancreatic cancer in the general population.

"Certain families just give you incredible, incredible clues," says Nancy Wexler, president of the Hereditary Disease Foundation. "They give you a way of looking at everyone else in the population. Sometimes all it takes is some exceptional patient, or family, to crack an entire disease."

Through family studies, scientists have been able to pinpoint where in the genetic makeup--sometimes down to the specific gene and its location on a specific chromosome--the inherited problem originates. And that is exactly what researchers at Johns Hopkins and the University of Nebraska hope their ongoing studies of families with the genetic form of pancreatic cancer will reveal.

Over 200 Post readers have completed and returned the "Pancreatic Cancer Survey" (page 38), sharing both personal stories and a willingness to participate in the ongoing genetic studies taking place at two of the leading familial pancreatic tumor cancer research centers in the United States. The centers will receive the Post surveys, but both encourage continued participation by filling out the Post survey and enrolling in the registries.

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The Post spoke with Dr. Ralph H. Hruban, professor of pathology and oncology at the Johns Hopkins University School of Medicine and director of the National Familial Pancreas Tumor Registry, and Dr. Randall Brand, associate professor of medicine at the University of Nebraska and director of the Pancreas Cancer Family Registry, to learn more about the genetic advances researchers have made and how families can participate in finding a cure for the disease.

Dr. Ralph Hruban

Q: How can studying families help researchers determine the cause(s) of pancreatic cancer?

A: It turns out that the genes that cause "sporadic" cancers in the general population are often the same genes that cause the familial clustering of a cancer. The cancer-causing changes in these genes in sporadic cancers are acquired after birth, while in familial forms of the cancer, the changes are inherited. Just as we can inherit our eye and hair color from our parents, so, too, can one inherit a gene change that increases cancer risk.

Q: Are certain ethnic groups at higher risk of getting pancreas cancer?

A: Yes. In the United States, pancreatic cancer is more common in African-Americans than it is in whites. In addition, several studies have suggested that pancreatic cancer occurs more frequently in Ashkenazi Jews than in non-Jews. The high rate in Ashkenazi Jews is probably caused by the higher frequency of inherited breast cancer gene mutations in that population.

Q: Do environmental exposures to pesticides, for example, possibly raise one's risk?

A: DDT exposure has been suggested as a possible risk factor for pancreatic cancer.

Q: How long have you been a pathologist at Johns Hopkins?

A: I came to Johns Hopkins as a medical student in 1981. I graduated in 1985, completed my residency training at Hopkins in 1989, and soon thereafter I began studying pancreatic cancer.

Q: By virtue of the volume of procedures performed at the hospital over the past two decades, does Johns Hopkins have more clinical pathological specimens relating to pancreatic cancer than any other institution?

A: Yes. Dr. John Cameron and the other surgeons here at Hopkins are extraordinarily gifted. Twenty or 30 years ago, surgery on the pancreas was associated with a 20 percent mortality rate. That means if you went in to have your pancreas removed, you had a one in five chance of dying from the surgery. Dr. Cameron has dedicated his career to improving surgery on the pancreas. Today, patients treated at Johns Hopkins have a very low mortality rate of 1 or 2 percent. As a result, many patients come to Johns Hopkins for treatment. Remarkably, so many patients now come to Hopkins for surgery that we have actually decreased statewide operative mortality for the procedure. Getting to know these patients has had an impact on my work. On the one hand, these patients are living proof of the devastation caused by the disease. Their suffering gives our research a sense of urgency. On the other hand, they also provide an enormous opportunity for us to study the disease. Simply put, here at Johns Hopkins, we have more pancreatic cancer samples than any other institution.

Q: Could you tell us about the National Familial Pancreas Tumor Registry at Johns Hopkins?

A: One of my big areas of interest is familial pancreatic cancer. We now have the world's largest research registry of familial pancreas cancer and continue to try to encourage more families to register. Our registry is called the National Familial Pancreas Tumor Registry, and we study why pancreatic cancer seems to run in some families. For example, it's been reported that former President Jimmy Carter lost two sisters, a brother, and a father to pancreatic cancer.

The aggregation of pancreatic cancer in an individual family could be related to chance or shared environmental exposure. Or it could be that there is a gene inherited in the family that causes the aggregation of pancreatic cancer. We are taking a multiprong epidemiological-genetic approach to study these families.

One of the first things that we did was to follow our families forward in time. We felt that if the disease occurred simply by chance, then nothing should happen to other healthy family members that we followed. They should have the same risk of pancreas cancer as you or me. Unfortunately, new pancreatic cancers have already developed in 11 of these families.