 |
|
Colon cancer risk in US traced to common ancester
January 02, 2008Discovery of founder mutation involves 2 large families in Utah, New York
Salt Lake City - A married couple who sailed from England to America around 1630 may be the ancestors of hundreds of people alive today who are at risk for a hereditary form of colon cancer.
Researchers from Huntsman Cancer Institute (HCI) at The University of Utah have discovered a founder mutation-a mutation that has been traced from many individuals in the present-day population back to a common ancestor-which may contribute to a significant percentage of colon cancer cases in the United States.
An article reporting the finding was published today in Clinical Gastroenterology and Hepatology.
The researchers studied two large families, one in Utah and one in New York, that both carry a specific genetic mutation responsible for increased risk of colorectal cancer. They discovered that the two families share common ancestors-a couple who came to America from England in the 1630s, about the time of the Pilgrims.
"The fact that this mutation can be traced so far back in time suggests that it could be carried by many more families in the United States than is currently known," says Deborah Neklason, Ph.D., a University of Utah research assistant professor and leader of the study. "In fact, this founder mutation might be related to many colon cancer cases in the United States."
The mutation causes a condition called attenuated familial adenomatous polyposis (AFAP). Without proper clinical care, people with the AFAP mutation have a greater than 2 in 3 risk of colon cancer by age 80, compared to about 1 in 24 for the general population. Yet the cancer can be prevented with proper screening and care.
"Knowing one has the condition can be life-saving," Neklason says. "Not only are affected individuals at greater risk then the general population as they grow older, but precancerous polyps are often found in mutation carriers in their late teens and colon cancer has been diagnosed in individuals in their 20s."
However, she explains, clinical recognition of AFAP can be difficult because colon cancer develops on average in a person's 50s and the majority of sporadic, or non-hereditary, colon cancers occur after the age of 50. About a third of people with AFAP also have just a few polyps-again similar to that for sporadic colon cancer-and they may have a limited family history.
"People need to talk with their family, learn their family cancer history, and share this information with their doctors. Doctors need to be aware of AFAP, recognize people at risk, and know the screening and treatment protocols that can prevent colon cancer from developing," Neklason says.
The Utah family in this study has more than 7,000 descendants spanning nine generations recorded in the Utah Population Database (UPDB), a shared resource for genetics research housed at HCI. Researchers use UPDB to identify and study families that have higher than normal incidence of cancer or other disease, to analyze patterns of genetic inheritance, and to identify specific genetic mutations.
Known individuals in this one family account for 0.15 percent of all colorectal cancers reported in Utah from 1966 to 1995. Based on that percentage, researchers expected to see eight cases of colon cancer from this family among the over 5,000 reported between 1996 and 2003.
But after previous research identified this family as affected by AFAP, aggressive education and clinical intervention resulted in only one mutation carrier in the family being diagnosed with colon cancer during those years.
"Preventing seven cancers may not sound like much," says Neklason. "But that's seven colon cancers that didn't devastate this family. And consider that $50,000 is a conservative estimate for the cost of colorectal cancer treatment. That amounts to at least $350,000, and that means a lot for any family."
University of Utah Health Sciences
An article reporting the finding was published today in Clinical Gastroenterology and Hepatology.
The researchers studied two large families, one in Utah and one in New York, that both carry a specific genetic mutation responsible for increased risk of colorectal cancer. They discovered that the two families share common ancestors-a couple who came to America from England in the 1630s, about the time of the Pilgrims.
"The fact that this mutation can be traced so far back in time suggests that it could be carried by many more families in the United States than is currently known," says Deborah Neklason, Ph.D., a University of Utah research assistant professor and leader of the study. "In fact, this founder mutation might be related to many colon cancer cases in the United States."
The mutation causes a condition called attenuated familial adenomatous polyposis (AFAP). Without proper clinical care, people with the AFAP mutation have a greater than 2 in 3 risk of colon cancer by age 80, compared to about 1 in 24 for the general population. Yet the cancer can be prevented with proper screening and care.
"Knowing one has the condition can be life-saving," Neklason says. "Not only are affected individuals at greater risk then the general population as they grow older, but precancerous polyps are often found in mutation carriers in their late teens and colon cancer has been diagnosed in individuals in their 20s."
However, she explains, clinical recognition of AFAP can be difficult because colon cancer develops on average in a person's 50s and the majority of sporadic, or non-hereditary, colon cancers occur after the age of 50. About a third of people with AFAP also have just a few polyps-again similar to that for sporadic colon cancer-and they may have a limited family history.
"People need to talk with their family, learn their family cancer history, and share this information with their doctors. Doctors need to be aware of AFAP, recognize people at risk, and know the screening and treatment protocols that can prevent colon cancer from developing," Neklason says.
The Utah family in this study has more than 7,000 descendants spanning nine generations recorded in the Utah Population Database (UPDB), a shared resource for genetics research housed at HCI. Researchers use UPDB to identify and study families that have higher than normal incidence of cancer or other disease, to analyze patterns of genetic inheritance, and to identify specific genetic mutations.
Known individuals in this one family account for 0.15 percent of all colorectal cancers reported in Utah from 1966 to 1995. Based on that percentage, researchers expected to see eight cases of colon cancer from this family among the over 5,000 reported between 1996 and 2003.
But after previous research identified this family as affected by AFAP, aggressive education and clinical intervention resulted in only one mutation carrier in the family being diagnosed with colon cancer during those years.
"Preventing seven cancers may not sound like much," says Neklason. "But that's seven colon cancers that didn't devastate this family. And consider that $50,000 is a conservative estimate for the cost of colorectal cancer treatment. That amounts to at least $350,000, and that means a lot for any family."
University of Utah Health Sciences
Colon Cancer News and Current Colon Cancer Events RSSVariation of normal protein could be key to resistance to common cancer drug
Researchers at the Moores Cancer Center at the University of California, San Diego (UC SD) in La Jolla have found evidence explaining why a common chemotherapy drug, cisplatin, may not always work for every cancer patient. They have shown that when a variant version of a key protein that normally causes cell death is active, patients may be resistant to the cancer-killing drug.
Anti-Cancer Flower Power
Could a substance from the jasmine flower hold the key to an effective new therapy to treat cancer?
Scientists discover major genetic cause of colorectal cancer
About one-third of colorectal cancers are inherited, but the genetic cause of most of these cancers is unknown. The genes linked to colorectal cancer account for less than 5 percent of all cases.
Experimental chemotherapy regimen shows promise in treating advanced lung cancer
A combination of chemotherapy agents that have been tested in other tumor types appears to be a promising alternative to standard treatment for advanced non-small cell lung cancer, according to a report in the August 15 issue of Clinical Cancer Research, a journal of the American Association for Cancer Research.
Exercise Pill is No Replacement for Exercise
Recently, researchers at the Salk Institute for Biological Studies, a research organization focused on biology and its relation to health, published a study in the journal Cell on the results of a substance that increased exercise endurance without daily exertion when tested in mice.
Researchers identify gene responsible for rare childhood disease
The chromosomal abnormality that causes a rare, but often fatal, disorder that affects infants has been identified by researchers at the University of California, San Diego School of Medicine, who happened to treat two young children with the disease in San Diego - two of perhaps a dozen children in the entire country diagnosed with the disorder.
'Smothered' genes combine with mutations to yield poor outcome in cancer patients
Johns Hopkins Kimmel Cancer Center researchers have identified a set of genes in breast and colon cancers with a deadly combination of traditional mutations and "smothered" gene activity that may result in poor outcomes for patients.
Study finds that significant proportion of men told wife's cancer was incurable late or not at all
A study conducted in Sweden found that more than 40 percent of widowers in that country whose wives died from cancer four or five years earlier reported they were either never told that their spouse's cancer was incurable, or they heard this information during the last week of her life.
Different type of colon cancer vaccine reduces disease spread, Jefferson scientists show
Taking advantage of the fact that the intestines have a separate immune system from the rest of the body, scientists at the Kimmel Cancer Center at Jefferson in Philadelphia have found a way to immunize mice against the development of metastatic disease.
Weight-loss surgery can cut cancer risk
Successful bariatric surgery allows morbidly obese patients to lose up to 70 percent of their excess weight and to maintain weight loss.
More Colon Cancer News Articles
 | Fiber Menace: The Truth About the Leading Role of Fiber in Diet Failure, Constipation, Hemorrhoids, Irritable Bowel Syndrome, Ulcerative Colitis, Crohn's Disease, and Colon Cancer by Konstantin Monastyrsky Fiber Menace is for people who believe fiber prevents cancers, reduces the risk of heart disease, regulates blood sugar, wards off diabetes, lowers appetite, induces weight loss, cleanses the colon, and eliminates constipation. Tragically, none of it is true, and Fiber Menace explains why it's the complete opposite. Most of those findings have been well known and widely publicized even before... |
 | American Cancer Society's Complete Guide to Colorectal Caner by American Cancer Society Don't die of embarrassment--get informed about colorectal cancer Although colorectal cancer is the third most common cancer found in men and women, you may be unaware of your risk and don't know what you can do to prevent this serious disease. You may be too embarrassed to ask your doctor about changes in your bowel habits or get screened for colorectal cancer. American Cancer Society's Complete... |
 | Hidden Spring: A Buddhist Woman Confronts Cancer by Sandy Boucher To an outsider, Buddhist meditation can appear self-indulgent, time frittered away buttressing an intransigent ego. To an insider, such as Sandy Boucher, the dividends of meditation can come at unforeseen times, under extreme circumstances, such as facing down malignant cancer. Boucher, a counterculture patchwork of pursuits and causes, sews together a memoir of suffering to rival any proof... |
 | Living With Colon Cancer: Beating the Odds by Eliza Wood Livingston Despite the efforts of Katie Couric to draw attention to the importance of colonoscopy screening for the detection of colon cancer, this cancer still does not receive the publicity devoted to breast, lung, and prostate cancer. Yet colorectal cancer is the third most common malignancy in the world and is the second leading cause of death from cancer next to lung cancer. As a result, colon cancer... |
 | Positive Options for Colorectal Cancer: Self-Help and Treatment by Carol Ann Larson Colorectal cancer develops slowly over a period of several years, undetected, usually as polyps. It is a preventable and treatable disease if caught in time, yet most know little about how to read its symptoms. Written for the layperson, this book covers all the uncomfortable questions and answers about the disease, from prevention and warning signs, to screening and diagnosis techniques, to... |
 | Gut-Check: Your Prime Source for Bowel Health and Colon Cancer Prevention by Jeffrey M. Aron, Harriette E. Aron Not just another diet or exercise book, but a unique reference tool that discusses a difficult subject with wisdom and wit and provides concise, expert information on how to optimize bowel function, prevent disease, and achieve great... |
 | Be a Survivor: Colorectal Cancer Treatment Guide (Be a Survivor) by Vladimir Lange Dr. Lange's comprehensive overview of cancer and treatment options offers detailed information using simple, concise language and a wide variety of color photos and drawings. Colorectal cancer patients need to know more about their disease, yet there is an overload of information. Be a Survivor gives the patient the specific, reliable and necessary information to make good decisions about their... |
 | What Your Doctor May Not Tell You About(TM) Colorectal Cancer: New Tests, New Treatments, New Hope (What Your Doctor May Not Tell You About...) by Mark Bennett Pochapin The latest edition in the bestselling What Your Doctor May Not Tell You series explodes the myths and misconceptions about the third most common-and second most deadly-form of cancer in the United States. Over 50,000 men and women die from colorectal cancer each year-a particularly alarming statistic since it is also one of the most preventable and treatable cancers. In fact, it is estimated that... |
 | Tell Me What to Eat to Help Prevent Colon Cancer by Elaine Magee Elaine Magee gives you all the information you can never seem to understand when the doctor rattles it off, and she answers all the questions you ever wanted to ask a dietitian about preventing colon cancer. You will find a host of specific recommendations-what to eat, what to avoid, and how to incorporate these changes into your lifestyle. Tell Me What to Eat to Help Prevent Colon Cancer begins... |
 | Modern Management of Cancer of the Rectum Modern Management of Cancer of the Rectum is intended to provide a comprehensive overview of all aspects of rectal neoplasms. It addresses such topics as epidemiology, biology, screening and chemoprevention, the role of imaging in diagnosis, staging and prognosis, radiation therapy, medical and surgical treatment, as well as new modalities of therapy, including laparoscopy, and transanal... |
| © 2008 BrightSurf.com |