Young colorectal cancer patients may have inherited Li-Fraumeni syndrome

Patients with Li-Fraumeni syndrome inherit a mutated gene from a parent that increases their risk for multiple cancers at a young age.  The syndrome is most frequently associated with soft-tissue sarcomas, bone sarcomas, leukemia, and early breast cancers, but other primary cancers are also involved. 

Research reported in the January 2006 issue of Gastroenterology found 11 patients from 10 different families with colorectal cancer diagnosed under age 50 among family members enrolled in a Li-Fraumeni registry.  Four of the 11 (36%) were diagnosed under age 21.  Half of the group had metastatic cancer at the time of diagnosis.

All of the 64 families in the registry met the criteria for Li-Fraumeni syndrome (LFS), which usually includes a mutation of the p53 gene.  Genetic analysis of the 11 colorectal cancer patients, or their families where patients had died, found all had a p53 genetic mutation.

Of the 64 classic LMS families in the registry,  15.4% had members with early onset colorectal cancer.

Although hereditary non-polyposis colon cancer (Lynch Syndrome) and familial adenomatous polyposis (FAP) are more common and  more frequently suspected in cases of children, teenagers, and younger adults with colorectal cancer, young patients should also be evaluated for Li-Fraumeni, according to the study authors. 

Identifying the syndrome, can alert both patients and family members of the risk for both colorectal cancer and other LFS-associated cancers.  Early mammography and colonoscopy may reduce deaths from breast or colorectal cancer while being aware of symptoms may help identify brain tumors and sarcomas.  A careful family history is critical to begin the identification process.

Li-Fraumeni should be considered when:

• Colorectal cancer is diagnosed under age 50, particularly when found those under age 21.
• There is a family history of early breast cancer.
• There is a family history of multiple primary cancers at a young age — including sarcomas, brain tumors, leukemia, and breast cancer, but not limited to them.
• There is parent affected with an LDS cancer.

The complete study, conducted by researchers at Brigham and Women’s Hospital and Dana-Farber Cancer Institute in Boston is available online.

Posted by Kate Murphy on February 10th, 2006
Posted in: Research & Treatment News | 3 Comments »

Changing to a lower-fat diet did not reduce colorectal cancer in women

A large study of nearly 50,000 postmenopausal women has found reducing the amount of overall fat in their diets did not reduce their risk of colorectal cancer after 8 years of follow-up according to an article in the February 8, 2005 issue of the Journal of the American Medical Association.

The Women’s Health Initiative randomly assigned 20,000 of the women to an intervention program designed to help them reduce the amount of fat in their diets and increase their daily consumption of fruits, vegetables, and grains.  Group sessions, self-monitoring techniques, and other targeted strategies were used to support the women in making changes to their diets.  The rest of the women continued their usual eating patterns.

After an average 8 year follow-up, the women in the intervention group had lowered the percentage of calories from fat from 35–39% to 24–29%, although both groups ate about the same number of calories.  In the first year they reduced their fat intake about 10.7%, and were mostly able to maintain the reduction throughout the 8 years.  However, they were not able to achieve the original goal of the program which was a reduction to 20% of calories from fat.  This fairly stringent low-fat diet does not allow butter on bread or oil on salad.

Despite the changes, there were no significant differences in the incidence of colorectal cancer between the women who changed their diets and those who did not.

However, women in the lower-fat group were less likely to develop colon polyps, suggesting that a benefit may emerge in the future.  It is possible that 8 years is too short a time to assess the value of making a change in diet on slow-developing colorectal cancers.

The research team, headed by Shirley A. A. Beresford, Ph.D., of the University of Washington and Fred Hutchinson Cancer Center, concluded:

“In this study, a low-fat dietary pattern intervention did not reduce the risk of colorectal cancer in postmenopausal women during 8.1 years of follow-up” 

Other articles in the same issue of JAMA  showed that the change to a lower-fat diet had no affect on cardiovascular disease or breast cancer.

Other articles about the study are found in:

Washington Post

USA Today

NY Times

Posted by Kate Murphy on February 9th, 2006
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Breast, but not digestive cancers, are more frequent in family members of people with Crohns’s disease

People with Crohn’s disease, an inflammatory bowel condition, are at high risk to develop colorectal cancer.  However, a recent study reported in the January 2005 issue of Digestive and Liver Disease.could not confirm the hypothesis that there was a genetic link involved in the increased risk.  Surprisingly, the researchers did find that family members of Crohn’s patients had more than the average number of cancers outside the digestive tract.  In particular, mothers of Crohn’s patients were more than twice as likely to have had breast cancer.

In an effort to discover whether or not there was a genetic susceptibility to gastrointestinal cancer in Crohn’s patients or whether the risk was due to chronic bowel inflammation, Italian researchers compared cancers in first degree relatives of patients with Crohn’s disease to similar family cancers in a control group without the disease.

632 patients with Crohn’s disease were matched with 632 controls, and the cancer history of 3,300 family members in each group were compared.  The number included almost 95% of first-degree relatives for both groups.

The results showed

• No difference in digestive cancers between the two groups.
• A higher risk for cancer outside the gastrointestinal tract for relatives of Crohn’s patients.
• A doubled incidence of breast cancer in female relatives of Crohn’s patients, particularly their mothers.
• 7.4% of first-degree relatives of Crohn’s patients had inflammatory bowel disease — Crohn’s Disease or ulcerative colitis — but none of them had cancer.

The team concluded:

These results did not corroborate the hypothesis about a common genetic susceptibility between Crohn’s disease and colorectal cancer. An unexpected finding was the more frequent occurrence of extra-digestive malignancies. The prevalence of breast cancer in first-degree relatives of Crohn’s disease patients, in particular the mothers, was more than double than in those of controls. This association, if confirmed, would suggest that there may exist common genetic and/or environmental factors for Crohn’s disease and breast cancer.

The entire study is available online in the Digestive and Liver Disease ( Volume 38, Issue 1, January 2006, Pages 18–22).

Posted by Kate Murphy on February 9th, 2006
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Red meat causes changes in bowel cells which may affect DNA

Scientists are studying the cells in the colon linings of volunteers to try to understand the effect of diet on the development of colorectal cancer.  In a study reported in the February 1, 2005 edition of Cancer Research volunteers were fed one of three carefully controlled diets:  high in red meat, high in fiber and red meat, or vegetarian. 

Stool specimens were collected and tested for NOC (N-nitrosocompounds), a substance associated with red meat consumption and an increased risk of colorectal cancer.  Cells in stool shed from the colon lining were tested for changes in DNA.

High red meat diets showed the greatest amount of NOC, as well as the most cell changes compared to vegetarian diets. High fiber-high meat diets showed intermediate changes, leading to the conclusion that fiber may modify the effect of red meat.

The scientists theorized that if DNA changes caused by consumption of red meat are not repaired, they may lead to the first changes in the process of developing colorectal cancer.

An article from Reuters explains the research.

Posted by Kate Murphy on February 6th, 2006
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AHRQ Releases 2005 National Healthcare Quality and Disparities Reports

Quality of health care for Americans has continued to improve at a modest pace, and health care disparities are narrowing overall for many minority Americans. But for Hispanics, disparities have widened in both quality of care and access to care, according to reports by HHS’ Agency for Healthcare Research and Quality (AHRQ).

The findings are contained in the 2005 National Healthcare Quality Report and its companion document, the 2005 National Healthcare Disparities Report. These reports, issued annually, measure quality and disparities in four key areas of health care: effectiveness, patient safety, timeliness, and patient centeredness.

The quality report employs a wide range of measures, including health care outcomes such as hospital-acquired infections and reductions in deaths from certain diseases. It also measures how well the health care system is using specific treatments that are known to work most effectively. The disparities report compares these measures by race and ethnicity and by income. It also measures access to care, using indicators such as health insurance status and frequency of visits to a physician. This year, for the first time, the report also shows trends in health care disparities from year to year.

The 2005 National Healthcare Quality Report finds that overall quality of care for all Americans improved at a rate of 2.8 percent, the same increase shown in last year’s report. However, the report notes there has been much more rapid improvement in some measures, especially where there have been focused efforts to improve care.

The 2005 National Healthcare Disparities Report finds that many of the largest disparities in measures of quality and access are observed for low-income people regardless of race or ethnicity, with some signs of improvement. Overall, more racial disparities in quality of care were narrowing than were widening, and most racial disparities in access to care were narrowing (affecting blacks, Asians and American Indians/Alaska Natives). But for Hispanics, the majority of disparities for both quality and access were growing wider.

“The quality report finds modest overall progress in quality of care for Americans and areas where we must continue to work to close health care gaps. Faster progress is especially apparent where focused efforts, including public reporting of quality results, have taken place,” said AHRQ Director Carolyn Clancy, M.D. “It is clear that the need for action to improve quality of care for all Americans continues to be great.”

Examples of findings in the AHRQ disparities report include:

• Rates of late-stage breast cancer decreased more rapidly from 1992 to 2002 among black women (169 to 161 per 100,000 women) than among white women (152 to 151 per 100,000), resulting in a narrowing disparity.
• Treatment of heart failure improved more rapidly from 2002 to 2003 among American Indian Medicare beneficiaries (69 percent to 74 percent) than among white Medicare beneficiaries (73 percent to 74 percent), resulting in an elimination of this disparity.
• The quality of diabetes care declined from 2000 to 2002 among Hispanic adults (44 percent to 38 percent) as it improved among white adults (50 percent to 55 percent).
• The quality of patient-provider communication (as reported by patients themselves) declined from 2000 to 2002 among Hispanic adults (87 percent to 84 percent) as it improved among white adults (93 percent to 94 percent).
• Access to a usual source of care increased slightly from 1999 to 2003 for Hispanics (77 percent to 78 percent) and whites (88 percent to 90 percent), with Hispanics less likely to have access to a usual source of care.

The report finds a 10.2 percent annual improvement in the five core measures of patient safety. These are areas where coordinated national efforts are underway to improve the delivery of specific “best practice” treatments to improve patient safety and reduce medical errors.

“In many areas, we know the specific treatment steps and procedures that are needed to improve quality. These reports indicate that when we focus on those best practices, we can make rapid improvement, especially when results are publicly reported,” Dr. Clancy said.

Improvements were greatest in quality measures for diabetes, heart disease, respiratory conditions, nursing home care, and maternal and child health care. The overall rate of change for these measures was 5.4 percent.

Dr. Clancy said the findings in the report can help target efforts more effectively to improve quality and reduce disparities. “These reports are a complex picture of our progress so far. They can help target where improvement is most needed and help show us how to bring those improvements about,” she said.

The reports were issued today at the National Leadership Summit on Eliminating Racial and Ethnic Disparities in Health, sponsored by the HHS Office of Minority Health. The summit marks the 20th anniversary of the issuance of the Report of the Secretary’s Task Force on Black and Minority Health, which led to new efforts to improve the health and health care of minority Americans.

The AHRQ reports are available online at www.qualitytools.ahrq.gov, by calling 1-800-358-9295 or by sending an E-mail to ahrqpubs@ahrq.gov.

Posted by Dusty Weaver on January 20th, 2006
Posted in: Policy & Advocacy News | No Comments »