Featured Research

from universities, journals, and other organizations

Inherited Cancer Mutation Is Widespread In America

Date:
April 18, 2008
Source:
Ohio State University Medical Center
Summary:
A gene mutation responsible for a form of inherited colon cancer is older than formerly believed. The findings offer a better understanding of the American Founder Mutation, which in North America causes Lynch syndrome, a hereditary cancer syndrome that increases colon-cancer risk. A 2003 study by the same investigators concluded that the mutation arrived in North America in 1727. The new study indicates that the mutation is actually about 500 years old.

A gene mutation responsible for the most common form of inherited colon cancer is older and more common than formerly believed, according to a recent study.

The findings provide a better understanding of the spread and prevalence of the American Founder Mutation, a common cause in North America of Lynch syndrome, a hereditary cancer syndrome that greatly increases a person's risk for developing cancers of the colon, uterus and ovaries.

The same investigators discovered the mutation in 2003. That research identified nine families with the mutation and concluded that a German immigrant couple brought the mutation to North America in 1727.

The latest study includes an additional 32 families and indicates that the mutation is actually about 500 years old, suggesting that it arose several generations earlier in Europeans or perhaps in Native Americans.

Of the 41 families overall, most are clustered in Kentucky, Ohio and Texas.

Scientists at the Ohio State University Comprehensive Cancer Center and Creighton University conducted the study, published recently in the journal Cancer Research.

"The increased age of the American Founder Mutation means that it is significantly more prevalent in the United States than previously thought," says principal investigator Albert de la Chapelle, a researcher with Ohio State's Human Cancer Genetics program.

"Of interest is that this mutation has not been found in Europe, which is tentative evidence, along with hints from family histories, that it may have arisen in a Native American."

The new study estimates that the mutation is present in 32,150 Americans as compared with the earlier figure of 18,981. "But these numbers are theoretical and need to be substantiated by further work," de la Chapelle notes.

"This is an important public health concern," de la Chapelle says, "because individuals with a Lynch syndrome mutation can benefit from earlier and more frequent cancer surveillance."

In addition, he says, a simple, cheap genetic test can detect the mutation.

Lynch syndrome, also known as hereditary nonpolyposis colon cancer, is responsible for about one third of hereditary colon cancers, and almost 3 percent of colon cancer generally, or about 4,500 cases annually in the United States.

The initial study of nine families showed that the American Founder Mutation results in the loss of a very specific piece of a gene called MSH2 (although many other mutations also cause Lynch syndrome).

The new study linked 27 of the 41 families into seven groups through genealogic studies.

The age of the mutation was estimated using certain markers along the DNA located at either end of the mutation. Such patterns of markers are called haplotypes.

When a new person was identified for the study, the DNA on each side of the individual's mutation was tested for the markers, producing a shared haplotype. The shorter the shared haplotype, the older the mutation. This information led to the estimated age of 500 years.

"This data pushed the original founder mutation back to around 1500, plus or minus a number of years," says coauthor Heather Hampel, a genetics counselor and researcher with Ohio State's Human Cancer Genetics Program.

"The Pilgrims began arriving in the 1600s, so the mutation could have arisen first in very early settlers from Europe, or in Native Americans."

"It's unclear whether we'll ever learn who the first person was to have this mutation," Hampel says, "but it is clear that the mutation is much older than we thought and probably more widespread. For that reason, we feel it is potentially a serious public health issue, particularly in states such as Kentucky, Ohio and Texas where it is very prevalent."


Story Source:

The above story is based on materials provided by Ohio State University Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Ohio State University Medical Center. "Inherited Cancer Mutation Is Widespread In America." ScienceDaily. ScienceDaily, 18 April 2008. <www.sciencedaily.com/releases/2008/04/080417155859.htm>.
Ohio State University Medical Center. (2008, April 18). Inherited Cancer Mutation Is Widespread In America. ScienceDaily. Retrieved April 18, 2014 from www.sciencedaily.com/releases/2008/04/080417155859.htm
Ohio State University Medical Center. "Inherited Cancer Mutation Is Widespread In America." ScienceDaily. www.sciencedaily.com/releases/2008/04/080417155859.htm (accessed April 18, 2014).

Share This



More Health & Medicine News

Friday, April 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins