Featured Research

from universities, journals, and other organizations

Missing gene may drive more than one in four breast cancers

Date:
August 20, 2012
Source:
Cornell University
Summary:
More than one out of every four cases of breast cancer is associated with a specific, missing gene – a finding that could have significant implications for chemotherapy treatments, according a recent study.

More than one out of every four cases of breast cancer is associated with a specific, missing gene -- a finding that could have significant implications for chemotherapy treatments, according a recent study by Cornell University researchers.

Related Articles


The study shows that the lack of a certain gene occurs in almost 28 percent of human breast cancers, playing a role in some 60,000 breast-cancer cases in the United States and 383,000 worldwide this year. Posted online in the journal Genetics, the study has important clinical implications: It suggests that several existing drugs may be effective in treating breast cancers with the missing gene, called NF1. It also suggests that the commonly used breast cancer drug tamoxifen could make the disease worse in these specific cancers.

The NF1 gene negatively regulates one of the most important oncogenes -- genes that when mutated or expressed at high levels contribute to turning a normal cell into a cancerous one. This oncogene, called RAS, is involved in signaling inside the cell to control growth. When NF1 is missing or depleted, RAS becomes hyperactivated and can lead to tumor formation.

In the study, Cornell researchers used a mouse model with elevated mutation rates that led to breast cancer in 80 percent of the mice.

"These mice almost always get mammary tumors, and when we looked at their genomes, nearly all of them were missing this NF1 gene," said John Schimenti, professor of genetics at Cornell's College of Veterinary Medicine and the paper's senior author. "There are many big cancer studies that identify the most commonly mutated genes, but they don't prove experimentally that those genes are the drivers of cancer."

In humans, there are many causes of breast cancer, and each patient's cancer has a slightly different set of natural gene variants as well as new mutations in their tumors, so identifying individual genes that drive cancer can be problematic. But the model mice are inbred and get exactly the same tumor every time. "So we've eliminated all the noise," allowing the researchers to identify NF1 as a driver of these tumors, said Schimenti.

In the mouse model, RAS is hyperactivated. Since RAS is one of the most important oncogenes, many drugs have been already developed to interrupt the RAS pathway to treat cancer. "If NF1 is missing and it is causing cancer by activating RAS, then these drugs may help," said Schimenti. "Therefore, there doesn't need to be any more drug development to test this possibility right now."

The study also suggests that tamoxifen, one of the most common breast cancer treatments, may exacerbate the disease when the missing NF1 is the driver. Another study reported that NF1 protein depletion makes cancer cells resistant to tamoxifen, and tamoxifen-treated patients whose tumors have low NF1 levels had poorer clinical outcomes.

Schimenti and his colleagues plan to test whether they can reverse growth of tumors in mice missing the NF1 gene by inserting a replacement gene. They are also testing how effective RAS inhibitor drugs are at curbing cancer in mice. The paper shows that RAS inhibitors curb growth of these tumor cells in culture.

Marsha Wallace, a graduate student working in Schimenti's lab at Cornell, is the paper's lead author. Researchers from the University of North Carolina and Sloan Kettering Cancer Center co-authored the study.

The study was funded by the National Institutes of Health, the Empire State Stem Cell Fund, the National Cancer Institute and the Breast Cancer Research Foundation.


Story Source:

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


Journal Reference:

  1. M. D. Wallace, A. D. Pfefferle, L. Shen, A. J. McNairn, E. G. Cerami, B. L. Fallon, V. D. Rinaldi, T. L. Southard, C. M. Perou, J. C. Schimenti. Comparative Oncogenomics Implicates the Neurofibromin 1 Gene (NF1) as a Breast Cancer Driver. Genetics, 2012; DOI: 10.1534/genetics.112.142802

Cite This Page:

Cornell University. "Missing gene may drive more than one in four breast cancers." ScienceDaily. ScienceDaily, 20 August 2012. <www.sciencedaily.com/releases/2012/08/120820110736.htm>.
Cornell University. (2012, August 20). Missing gene may drive more than one in four breast cancers. ScienceDaily. Retrieved April 1, 2015 from www.sciencedaily.com/releases/2012/08/120820110736.htm
Cornell University. "Missing gene may drive more than one in four breast cancers." ScienceDaily. www.sciencedaily.com/releases/2012/08/120820110736.htm (accessed April 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, April 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

7-Year-Old Girl Gets 3-D Printed 'robohand'

7-Year-Old Girl Gets 3-D Printed 'robohand'

AP (Mar. 31, 2015) — Although she never had much interest in prosthetic limbs before, Faith Lennox couldn&apos;t wait to slip on her new robohand. The 7-year-old, who lost part of her left arm when she was a baby, grabbed it as soon as it came off a 3-D printer. (March 31) Video provided by AP
Powered by NewsLook.com
Solitair Device Aims to Takes Guesswork out of Sun Safety

Solitair Device Aims to Takes Guesswork out of Sun Safety

Reuters - Innovations Video Online (Mar. 31, 2015) — The Solitair device aims to take the confusion out of how much sunlight we should expose our skin to. Small enough to be worn as a tie or hair clip, it monitors the user&apos;s sun exposure by taking into account their skin pigment, location and schedule. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Soda, Salt and Sugar: The Next Generation of Taxes

Soda, Salt and Sugar: The Next Generation of Taxes

Washington Post (Mar. 30, 2015) — Denisa Livingston, a health advocate for the Dinι Community Advocacy Alliance, and the Post&apos;s Abby Phillip discuss efforts around the country to make unhealthy food choices hurt your wallet as much as your waistline. Video provided by Washington Post
Powered by NewsLook.com
UnitedHealth Buys Catamaran

UnitedHealth Buys Catamaran

Reuters - Business Video Online (Mar. 30, 2015) — The $12.8 billion merger will combine the U.S.&apos; third and fourth largest pharmacy benefit managers. Analysts say smaller PBMs could also merge. Fred Katayama 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