New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence.
In a small study of 126 women with NF1 at the Johns Hopkins Comprehensive Neurofibromatosis Center, the Johns Hopkins scientists identified four cases of breast cancer. The study showed a four-fold increased risk for breast cancer in women with NF1 compared to the general population of women under the age of 50. NF1 is characterized by the uncontrolled growth of mostly non-cancerous tumors along the body's nerves, often resulting in pain and disfigurement.
Beyond their implications for breast cancer screening guidelines for women with NF1, the findings may also shed light on the origins and nature of breast cancer in those without the syndrome, the researchers say, because other recent studies suggest that some women without neurofibromatosis-1 had breast cancers fueled primarily by an NF1 mutation. A recent study, for example, described in the journal Nature, estimated that 3 percent of all breast cancers in the general population are caused by NF1 mutations that arise spontaneously.
"When we study rare populations intensively, we learn things that also may be factors in very common diseases, like breast cancer," says Jaishri Blakeley, M.D., an assistant professor of neurology, neurosurgery and oncology at the Johns Hopkins University School of Medicine, and leader of the new study described online in the American Journal of Medical Genetics. "What we learn from this population will help us learn more about the subtleties of different types of breast cancers."
The major implication of their study, Blakeley says, is the need for medical specialty societies to develop guidelines recognizing 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, the skin and can be disfiguring and painful, depending on where they are located. They can also appear in the brain and large nerves of the body, resulting in neurologic injury. Sometimes the tumors are surgically removed or treated with chemotherapy or radiation. However, these interventions can be risky and do not result in a cure, so many of those affected must live with the tumors and the disfigurement or pain that may accompany them, says Amanda Bergner, M.S., CGC, an assistant professor of genetics and neurology at Johns Hopkins who contributed to the research.
The study by Blakeley and Bergner, along with Sara Madanikia and Xiaobu Ye, M.D., all of Johns Hopkins, confirms data in another study published in the same issue of the journal, and two European studies published in recent years. An editorial by D. Gareth Evans of the University of Manchester, accompanying their article, also calls for the development of aggressive screening guidelines for women with NF1.
The research was supported by the Johns Hopkins Predoctoral Clinical Research Training Program, grant number 1TL1RR-025007, funded by the National Center for Research Resources, part of the National Institutes of Health.For more information:
Stephanie Desmon | EurekAlert!
Transport of molecular motors into cilia
28.03.2017 | Aarhus University
Asian dust providing key nutrients for California's giant sequoias
28.03.2017 | University of California - Riverside
The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.
To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
28.03.2017 | Life Sciences
28.03.2017 | Information Technology
28.03.2017 | Physics and Astronomy