Featured Research

from universities, journals, and other organizations

Gene Variant Increases Breast Cancer Risk

Date:
March 18, 2008
Source:
Helmholtz Association of German Research Centres
Summary:
A common gene variant increases the risk of developing breast cancer. In roughly five to ten percent of breast cancer cases there is a family history of breast cancer– i.e., hereditary and, thus, genetic factors play a role here. Alterations in the genes known as BRCAI and BRCAII are a major cause of familial breast cancer – these are responsible for roughly 25 percent of such cases.

An international research consortium under the leadership of scientists of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) has shown that a common gene variant increases the risk of developing breast cancer.

In roughly five to ten percent of breast cancer cases there is a family history of breast cancer– i.e., hereditary and, thus, genetic factors play a role here. Alterations in the genes known as BRCAI and BRCAII are a major cause of familial breast cancer – these are responsible for roughly 25 percent of such cases.

"In Germany, 75 percent of familial breast cancers are not attributable to mutations in BRCAI and BRCAII. We assume that these cancers are caused in part by rare mutations and in part by unfavorable combinations of risk variants in various genes, which, on their own, have only little effect. Only very few of these have been identified so far – we are searching for the other ones," said Associate Professor Dr. Barbara Burwinkel of the DKFZ.

Members of the AKAP protein family are responsible for transmitting important signals in a cell. Scientists have suspected these proteins to be involved in cancer development. A large international study headed by Barbara Burwinkel has now delivered proof that this is true for breast cancer.

In collaboration with the German Consortium for Familial Breast and Ovarian Cancers, the research team studied six gene variants in the AKAP family. Two of these, both located on the AKAP9 gene, have indeed been found to be associated with an increased breast cancer risk. Since the two gene variants are always inherited together, further investigations will have to determine whether one of these or both variants in combination are responsible for the risk effect. This finding was confirmed by a large international study in collaboration with researchers from Germany, the United Kingdom, the U.S.A. and Australia. The study included 9,523 breast cancer patients including 2,795 familial breast cancer cases and almost 14,000 healthy women.

For women carrying the two variants in both copies of their AKAP9 genes, the risk of developing breast cancer in the course of their lifetimes is elevated by 17 percent. In women from breast cancer families, this effect is even more substantial: their risk is increased by 27 percent. If only one of the AKAP9 copies is affected, the breast cancer risk is only slightly elevated by approximately eight percent or twelve percent for women from breast cancer families, respectively.

"This shows that the AKAP9 variants have much less effect on breast cancer risk than, for example, BRCA mutations. On the other hand, these variants are much more common in the population. We also do not know yet which control cycles of the cell metabolism are affected and how this can lead to cancer," said Barbara Burwinkel to qualify the finding. "But there is already evidence suggesting that the two variants also increase the risk of developing lung cancer or colon cancer."

Bernd Frank, Miriam Wiestler, Silke Kropp, Kari Hemminki, Amanda B. Spurdle, Christian Sutter, Barbara Wappenschmidt, Xiaoqing Chen, Jonathan Beesley, John L. Hopper, Australian Breast Cancer Family Study Investigators, Alfons Meindl, Marion Kiechle, Tracy Slange , Peter Bugert, Rita K. Schmutzler, Claus R. Bartram, Dieter Flesch-Jany , Elke Mutschelknauss, Katie Ashton, Ramona Salazar, Emily Webb, Ute Hamann, Hiltrud Brauch, Christina Justenhove , Yon-Dschun Ko, Thomas Brόning, Isabel dos Santos Silva, Nichola Johnson, Paul P. D. Pharoah, Alison M. Dunning, Karen A. Pooley, Jenny Chang-Claude, Douglas F. Easton, Julian Peto, Richard Houlston, Gene Environment Interaction and Breast Cancer in Germany Group, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Investigators, Australian Ovarian Cancer Study Management Group, Georgia, Chenevix-Trench, Olivia Fletcher and Barbara Burwinkel: Association of a Common AKAP9 Variant With Breast Cancer Risk: A Collaborative Analysis. Journal of the National Cancer Institute, vol. 100, page 1, 2008


Story Source:

The above story is based on materials provided by Helmholtz Association of German Research Centres. Note: Materials may be edited for content and length.


Cite This Page:

Helmholtz Association of German Research Centres. "Gene Variant Increases Breast Cancer Risk." ScienceDaily. ScienceDaily, 18 March 2008. <www.sciencedaily.com/releases/2008/03/080314130420.htm>.
Helmholtz Association of German Research Centres. (2008, March 18). Gene Variant Increases Breast Cancer Risk. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2008/03/080314130420.htm
Helmholtz Association of German Research Centres. "Gene Variant Increases Breast Cancer Risk." ScienceDaily. www.sciencedaily.com/releases/2008/03/080314130420.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