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Gene that causes tumor disorder linked to increased breast cancer risk
Date:11/26/2012

izing NF1 patients under the age of 50 as a group at increased risk for breast cancer. Guidelines developed by medical societies would change clinical practice and, just as importantly, encourage insurance companies to pay for potentially lifesaving screening in younger women with the debilitating disease, the researchers add.

"There are guidelines for how to care for women at high risk for breast cancer because of a family history of the disease, or because they have the BRCA genetic mutations, but there are no guidelines for women with NF1," Blakeley says. "Women with NF1 haven't even been on the radar as a high-risk population. Now that we increasingly understand the risk, we have to make sure doctors are talking to their patients about the benefits and risks of early screening."

Blakeley, director of the Johns Hopkins Comprehensive Neurofibromatosis Center, says she recommends that her NF1 patients get a manual breast exam from a physician annually, beginning in their teens. She recommends mammograms beginning at age 40, 10 years earlier than current National Cancer Institute guidelines for the general population. Research has not yet determined the ideal time for NF1 patients to get their first mammograms; some physicians suggest age 30, the age recommended for women with BRCA mutations. Blakeley says that because radiation exposure can sometimes trigger benign tumors to change to malignant tumors in NF1 patients, she worries about an extra 10 years of radiation exposure due to mammography.

The normal Nf1 gene is one of a number of so-called tumor suppressor genes. Roughly one in 3,000 Americans (equal numbers of males and females) has a mutated copy that no longer functions properly and allows tumors to grow unchecked. About half of people with NF1 inherit an Nf1 gene mutation from a parent, and the other half are the first in their family to have an Nf1 gene mutation.

In people with NF1, tumors often are on, or just below,
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Contact: Stephanie Desmon
sdesmon1@jhmi.edu
410-955-8665
Johns Hopkins Medicine
Source:Eurekalert

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