Featured Research

from universities, journals, and other organizations

Scientists Confirm New Breast Cancer Gene

Date:
May 17, 2004
Source:
Cancer Research UK
Summary:
Inheriting the wrong version of a gene called CHEK2 doubles a woman's risk of developing breast cancer, Cancer Research UK scientists confirm in a major new international study published in the June edition of the American Journal of Human Genetics.

Inheriting the wrong version of a gene called CHEK2 doubles a woman's risk of developing breast cancer, Cancer Research UK scientists confirm in a major new international study published in the June edition of the American Journal of Human Genetics.

CHEK2 is the first 'low risk' gene to have been definitely established as a risk factor. It follows the identification in the mid-nineties of the high-risk genes, BRCA1 and BRCA2.

The possibility of offering genetic testing for this gene in women with a strong family history of breast cancer is now being researched.

The link between CHEK2 and breast cancer was first proposed in 2002, when a faulty version of the gene was found to be present in some cases with a strong family history of breast cancer. 'Strong family history' indicates at least two close family members have had the disease.

Today's research, coordinated and analysed by Cancer Research UK's Genetic Epidemiology Unit at the University of Cambridge, examined the genes of breast cancer patients and the wider population in the UK, Australia, Finland, Germany and the Netherlands.

The report confirms that the faulty version of the gene, called CHEK2*1100delC, was more common in women diagnosed with breast cancer than in healthy women. In total, they examined the CHEK2 genes of 10,860 women with breast cancer and 9,065 healthy women.

The 1100delC variant was found in 201 women with breast cancer (1.9%) and in 64 healthy individuals (0.7%). Scientists calculate from this that having the variant CHEK2 gene approximately doubles the risk of developing breast cancer, whether or not there is a history of breast cancer in the family.

Lead researcher Professor Doug Easton, of the Cancer Research UK Genetic Epidemiology Unit, says: "Women with a strong family history of breast cancer can already receive genetic tests for the BRCA genes. The next step will be to evaluate whether testing for CHEK2 is useful in the clinic. At the moment it is not clear in what contexts CHEK2 testing would be appropriate.

"As we identify more genes that impact on hereditary breast cancer, we move closer to a comprehensive genetic test to accurately assess the risk of inheriting the disease."

Women in the general population in the UK have a one in nine chance of developing breast cancer at some point in their lifetime. Carrying CHEK2*1100delC would increase this risk to about one in four. CHEK2 is the first confirmed 'low risk' gene. Scientists believe a number more exist, each pushing up the risk of breast cancer to a moderate degree.

The data suggest the increase in risk was greater for women diagnosed at a younger age. Hereditary factors are generally more important in cancers that occur in younger women.

Professor Easton adds: "This is perhaps the largest study of its kind. It is the most reliable method for calculating the impact of potential breast cancer genes, and is also being applied to other types of cancer."

Scientists believe the normal CHEK2 gene shuts down cells in a safe and controlled way upon detection of DNA damage. This prevents the cell from passing on faulty DNA, and allows time for repair mechanisms to be engaged. If a normal cell is like a car on the motorway, CHEK2 is responsible for spotting problems, pulling onto the hard shoulder and calling the AA.

CHEK2*1100delC is missing a vital piece – the brake pedal in the car – and is unable to initiate shutdown. Carrying this version means faults in other genes are more likely to evade the body's own repair processes and replicate themselves, potentially leading to a tumour.

Professor Robert Souhami, Director of Clinical and External Affairs at Cancer Research UK, says: "Identifying the first of a new set of breast cancer genes puts us in a much better position to tackle breast cancer, both through testing high-risk groups and eventually through new clinical strategies. "

ENDS

Notes for editors CHEK2*1100delC is only found in about 2% of all breast cancer patients, which is why general testing would be impractical. For women with a strong family history of breast cancer, however, screening for the variant would help in assessing each woman's individual risk.

Women with mutations in the BRCA1 and BRCA2 genes have a 50-80% chance of developing breast cancer. CHEK2 does not affect this risk because it is part of the same mechanism in cells, but it is thought to be the first of a group of low-risk genes that may explain hereditary breast cancer in families with normal copies of BRCA1 and 2.

This study did not look at breast cancer in men. About 1% of breast cancers are diagnosed in men. Earlier studies did identify CHEK2 as a risk factor in male breast cancer, and further analyses are ongoing.

Information on breast cancer and genes at: http://www.cancerhelp.org.uk.


Story Source:

The above story is based on materials provided by Cancer Research UK. Note: Materials may be edited for content and length.


Cite This Page:

Cancer Research UK. "Scientists Confirm New Breast Cancer Gene." ScienceDaily. ScienceDaily, 17 May 2004. <www.sciencedaily.com/releases/2004/05/040517073630.htm>.
Cancer Research UK. (2004, May 17). Scientists Confirm New Breast Cancer Gene. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2004/05/040517073630.htm
Cancer Research UK. "Scientists Confirm New Breast Cancer Gene." ScienceDaily. www.sciencedaily.com/releases/2004/05/040517073630.htm (accessed October 21, 2014).

Share This



More Health & Medicine News

Tuesday, October 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC Revamps Ebola Guidelines After Criticism

CDC Revamps Ebola Guidelines After Criticism

Newsy (Oct. 21, 2014) The Centers for Disease Control and Prevention have issued new protocols for healthcare workers interacting with Ebola patients. Video provided by Newsy
Powered by NewsLook.com
WHO: Ebola Vaccine Trials to Start a in January

WHO: Ebola Vaccine Trials to Start a in January

AP (Oct. 21, 2014) Tens of thousands of doses of experimental Ebola vaccines could be available for "real-world" testing in West Africa as soon as January as long as they are deemed safe in soon to start trials, the World Health Organization said Tuesday. (Oct. 21) Video provided by AP
Powered by NewsLook.com
First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

Newsy (Oct. 21, 2014) A medical team has for the first time given a man the ability to walk again after transplanting cells from his brain onto his severed spinal cord. Video provided by Newsy
Powered by NewsLook.com
CDC Issues New Ebola Guidelines for Health Workers

CDC Issues New Ebola Guidelines for Health Workers

Reuters - US Online Video (Oct. 21, 2014) The U.S. Centers for Disease Control and Prevention has set up new guidelines for health workers taking care of patients infected with Ebola. Linda So reports. Video provided by Reuters
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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