WEDNESDAY, Jan. 2 (HealthDay News) -- Mr. and Mrs. George Fry sailed from the Old World to the New World around 1630 on a ship most likely named the William & Mary.

Along with at least two of their four children, they most certainly brought with them a unique genetic mutation for colon cancer, a new study shows.

This "founder mutation," which increases the risk for colon cancer, has now been passed on to a considerable number of the descendants of the original couple, the University of Utah researchers added.

The mutation has not been found in England, said study author Deb Neklason, meaning that it likely originated with either Mr. or Mrs. Fry. Her report is published in the January issue of Clinical Gastroenterology and Hepatology.

"It is a neat story of a so-called founder mutation, that is one that from its origin in a single individual has multiplied in a given population . . . so that today, it is carried by members of ostensibly unrelated families who yet descend from the one founder," explained Dr. Albert de la Chapelle, distinguished university professor of the Human Cancer Genetics Program at Ohio State University's Comprehensive Cancer Center. "It is usually a matter of chance whether such a mutation becomes more and more widespread with time, or whether it disappears. This phenomenon is called genetic drift. In this case, the mutation appears to have spread but perhaps not excessively so."

The ACP gene mutation identified by Neklason and her colleagues causes attenuated familial adenomatous polyposis (AFAP), a condition which results in a 69 percent greater risk of developing colon cancer by the age of 80. This is compared to a roughly one in 24 chance for the general population.

Like colorectal cancer in general, cancer resulting from the ACP mutation can be prevented with appropriate screening. But the researchers say it's not easy to detect people with the mutation through normal check-ups.

De la Chapelle was one of a group of scientists who discovered a different founder mutation in 2004, this one in the MSH2 gene, that is also responsible for an increased risk of colorectal cancer. "[The MSH2 mutation] causes regular and other cancers typical of the Lynch syndrome, and the risk is very high, whereas the APC one causes a mild form of polyposis, which does have a relatively high cancer risk," de la Chapelle noted.

The MSH2 mutation was brought to Pennsylvania by a German immigrant couple in the early 18th century.

Neklason and her colleagues arrived at their discovery by studying two large families, one in Utah and one in New York, that carry the ACP mutation. The Utah family has more than 7,000 descendants in nine generations.

The researchers relied on family reports, the Utah Population Database, records maintained by the Church of Jesus Christ of Latter-day Saints (Mormons), as well as statewide cancer records in Utah and Idaho and Utah death certificates and birth certificates.

Family members underwent genetic analysis and colonoscopy data was available on 120 individuals within these families.

Both families were linked to the Fry family.

Because the couple came here so long ago, many more people than originally thought may carry the mutation. The researchers have identified 14 additional families in the United States who have the exact same mutation.

"They are almost certainly related. They all come off of this founder somewhere, but we don't know where, and we only have a glimpse," Neklason said. "We hope with this publication we're going to be able to find many families throughout the country that have the genetic change."

Current guidelines for detection of people with this mutation are murky and, Neklason estimated, may detect only about 87 percent of these people.

However, individuals can help their own cause.

"This stresses the importance of knowing your family history and your immediate family history," Neklason said. "The other big implication is that it's preventable, and that's the important part."

Current screening methods can detect precancerous polyps and remove them before they turn malignant.

More information

The Cleveland Clinic   has more on attenuated familial adenomatous polyposis.

WEDNESDAY, Jan. 2 (HealthDay News) -- A single change in the epidermal growth factor (EFG) gene may double the risk of developing liver tumors, especially among people with cirrhosis, new research suggests.

Hepatocellular carcinoma is a liver tumor that is the third leading cause of cancer death and may result from this genetic variation, said the researchers. It is also the sixth most common solid tumor worldwide and often develops in people who have cirrhosis.

Cirrhosis is a liver disease that can result from long-term alcohol abuse or infection with the hepatitis C or B viruses. According to the U.S. National Cancer Institute, about five percent of people with cirrhosis will develop liver cancer.

The research, published in the Jan. 2 edition of the Journal of the American Medical Association, suggested that people who have one or two guanine nucleotides at the EFG gene site, instead of two adenine nucleotides, are at significantly greater risk of cancer.

"If these results are confirmed, this EGF variation could be used to determine which cirrhotic patients should be screened more intensively for tumor development," lead author Dr. Kenneth Tanabe, chief of surgical oncology at the Massachusetts General Hospital Cancer Center, said in a prepared statement. "In addition, the molecular pathway controlled by EGF and its receptor, EGFR, which is known to be important in several types of cancer, appears to be an excellent target for chemoprevention studies. This is a deadly cancer, and so progress in prevention and early detection is critically important."

The EFG gene normally works to increase tissue growth through the production of EFG protein. Animal studies previously demonstrated a link between high levels of EFG and tumor development. Blocking the protein's receptor has been shown to prevent tumor growth. This is the first study to assess the relationship in humans, according to the researchers.

When the EFG gene contains one or two guanine nucleotides (guanine instead of the more common adenine), EFG is present in a greater quantity in the blood, raising the carrier's risk of cancer, the study found.

Knowing this, the research team analyzed tissue samples from 207 Massachusetts General Hospital patients with cirrhosis, the majority of whom were infected with hepatitis C. Of that group, 59 had a hepatocellular carcinoma. The researchers found that patients with at least one copy of the guanine nucleotide were two times more likely than patients with only adenine nucleotides to develop liver tumors. Patients with two guanine nucleotides were four times more likely to develop liver tumors.

The researchers also found that EFG levels were highest in those people with two guanine nucleotides.

The team then analyzed data from patients at the Paul Brousse Hospital in Paris, most of whom suffered from alcoholic cirrhosis. These patients were three times more likely to have a liver tumor if they had two guanine nucleotides than if they had two adenine nucleotides.

The researchers noted that age and gender had no effect on the genetic risk of developing the tumor. The majority of the subjects were Caucasian, but the researchers found an increased risk of the genetic variation among Asian patients. More than half of hepatocellular cancer cases worldwide occur in China.

Tanabe and his colleagues called for a study of patients with cirrhosis before the development of liver cancer to better understand other variables, such as diet and medications, that could affect EFG levels.

More information

To learn more about liver cancer, visit the U.S. National Cancer Institute .

WEDNESDAY, Dec. 19 (HealthDay News) -- Most cancer specialists do not respond to the emotional concerns of their patients with verbal expressions of empathy and support, a new study reveals.

The finding suggests that cancer patients' quality of life might be significantly improved if doctors were better trained to recognize and address patients' emotional concerns as they battle the disease.

"We audio-recorded doctor-patient interactions, and we analyzed them, and what we found is that when patients expressed negative emotions, doctors did not always respond empathetically," said study author Kathryn L. Pollak, an associate professor at Duke University Medical Center's Community and Family Medicine Department, in Durham, N.C.

Pollak's team published its findings in the Dec. 20 issue of the Journal of Clinical Oncology.

To assess the frequency of empathetic interactions in an oncology setting, the authors first surveyed 51 oncologists who were caring for a total of 270 cancer patients at Duke, the Durham Veterans Affairs Medical Center, or the University of Pittsburgh.

The physicians, mostly white and male, were questioned about their level of confidence in addressing patient concerns; their sense of how various communication approaches might affect a patient; and their general comfort level with psycho-social types of conversation.

As well, the doctors were asked if they felt they were more inclined toward the technological and scientific aspects of patient care or more disposed to focus on the social and emotional side of treatment.

The researchers also recorded almost 400 audiotapes of conversations that had taken place between physicians and patients.

All the patients had advanced-stage cancer, and their physicians indicated that they would not be surprised if they ended up dying from their illness within a year. Almost three-quarters of the patients were white, and they averaged a little over 60 years of age.

Most of the patients had established a relationship with their oncologist -- 90 percent said they had known their doctor for at least six months prior to the study.

According to the researchers, more than two-thirds of the physicians said they were oriented toward the technical aspects of patient care, but most were also highly confident in their ability to deal with patient concerns. Most of the doctors also believed they were comfortable with emotionally charged conversations.

Yet, after reviewing all the tapes, Pollak and her colleagues determined that cases in which doctors responded to patients' concerns with empathy were rare.

Fewer than 300 so-called "empathic opportunities" occurred during the almost 400 conversations. Such opportunities were defined as points at which a patient had verbally expressed negative emotions -- such as fear or worry -- to which the doctor could respond as he or she saw fit.

Female patients were more likely to express such feelings, particularly if their doctor was also female, the researchers observed.

When such emotions were expressed, almost three-quarters of the time doctors chose to "terminate" the conversation by offering, for example, blanket reassurance that time would solve the problem.

Occasions in which doctors would empathetically promote "continuation" of the conversation by encouraging elaboration and/or expressing some form of understanding or support were far less frequent, occurring little more than a quarter of the time.

Oncologists who offered more empathic statements were younger than those who didn't, and those who stayed longer to converse with the distressed patient were more likely to have described themselves as highly focused on the emotional dimension of patient care.

The research team concluded that oncologists need better education to recognize and respond appropriately to patients' emotions.

"Oncologists clearly care about their patients," said Pollak. "They wouldn't go into oncology if they didn't. But oncology is a really challenging field, and, in general, oncologists have not been trained in how to communicate with patients. So, it's a pretty difficult situation for them."

"The good news is that the ability to communicate is something that can be taught," she added. "I wouldn't say it's an innate skill. Many doctors who say they are less comfortable conveying emotions with patients suffer from a lack of training. What they need is to be taught how to verbalize how they feel, and there have been several programs around the world that have shown that this kind of communication training can produce good communicators."

Pollak noted that she and her team are now conducting a follow-up study to see how communication skills might improve if oncologists were given personalized CD-Roms to screen video of their own interactions with patient. Data from the study has yet to be analyzed.

Another expert agreed that training could only help.

"The emphasis in medical school is not usually focused on the emotional side of things," noted Kevin Ochsner, an assistant professor of psychology at Columbia University, New York City. "It's about being able to get the diagnosis right. But, in fact, it's as important to communicate that a patient's feelings matter and are an important part of the equation as it is to convey the probability that a certain procedure will or will not have a positive outcome."

"Empathy," added Ochsner, "is the social glue that knits people together because the ability to connect with one another emotionally and to understand the feelings of one another promotes rapport and bonding. So, making patients feel that they're heard will help them feel secure and less anxious. It helps regulate their emotions, and this has all kinds of important mental and physical health effects."

More information

For more on physician empathy, visit the American Medical Association  .

WEDNESDAY, Dec. 19 (HealthDay News) -- Supposedly "innocent" cells in the area surrounding cancerous tumors in the breast are definitely not always innocent and can predict whether or not the cancer spreads to the lymph nodes, new research suggests.

The finding of alterations in the tumor-suppressing p53 gene in the stroma -- the region surrounding the tumor -- have future implications, the researchers said.

"The stroma looks innocent under the microscope, but there's an evil seed in innocent soil," said study senior author Dr. Charis Eng, chair of the Cleveland Clinic Genomic Medicine Institute in Ohio.

"This could be a new type of [cancer] biomarker, p53 in the stroma," she added.

In addition, the findings may one day eliminate the need to remove and dissect the lymph nodes which, as Eng points out, is a "nuisance" to patients.

Even further down the line, the stroma might provide a new target for drug therapies.

"It's a significant study," said Steve A. Maxwell, an associate professor of molecular and cellular medicine at Texas A&M Health Science Center College of Medicine, in College Station. "Treatments targeting p53 in the stroma might lead to suppression of spread [of the cancer] or to prevention of recurrence. I don't see it as a cure, but it could contain future spread."

Further research is needed before any of these scenarios become reality, the researchers said.

The findings are published in the Dec. 20 issue of the New England Journal of Medicine.

"Communication" between a tumor and the stroma is increasingly a subject of research.

So is p53, a much-studied oncogene. P53 is involved in repairing DNA damage and other functions which prevent cells from turning malignant. This gene is mutated in 20 percent to 50 percent of breast cancers.

In 1999, Eng's group looked at seemingly harmless stromal cells and found that they had cancer-related mutations in the p53 gene.

For this study, the group looked at whether genetic alterations in the stroma had any impact on clinical outcomes, and if they could predict the spread of the cancer.

To this end, they analyzed tissue samples from 218 breast cancer patients: 43 with hereditary breast cancer and 175 with sporadic breast cancer.

A technique called laser-capture microdissection was used to take individual breast cancer cells and surrounding stromal cells.

Mutations in p53, in the stroma but not in the cancer, increased the chances that the cancer would spread to the lymph nodes, indicating a worse outcome for these patients.

But even when the p53 alteration was not present, changes in five other markers resulted in the same outcome.

In other words, changes in the microenvironment surrounding a tumor can impact how the cancer spreads, the research suggests.

A second study in the same issue of the journal found that mutations in the same p53 gene were associated with shorter survival after surgery in patients with squamous-cell carcinoma of the head and neck.

This type of cancer is one of the most common cancers in the world; more than 45,000 new cases are expected to be diagnosed in the United States in 2007.

P53 mutations in general and a specific p53 mutation were associated with poorer survival, reported a team led by Dr. Wayne Koch, of Johns Hopkins University, Baltimore.

More information

There's more on the p53 gene at the U.S. National Library of Medicine.