Public Release: 

Study shows gene variations may predict risk of breast cancer in women

Northwestern Memorial physician leads study that paves way for future genetic testing models

Northwestern Memorial HealthCare

CHICAGO - According to a recent study, led by Virginia Kaklamani, MD, an oncologist at Northwestern Memorial Hospital and assistant professor of medicine, Northwestern University Feinberg School of Medicine, variations of the adiponectin gene, which regulates a number of metabolic processes, may increase a woman's risk of developing breast cancer. This discovery is an important step forward in cancer genetics research, as it could help experts develop a future genetic testing model to more accurately predict a woman's risk of developing breast cancer.

Dr. Kaklamani's research, which is published in the May 1 issue of Cancer Research, suggests some women are born with different characteristics in the adiponectin gene which can alter its function and increase the risk of breast cancer. This finding, coupled with previous studies that have found a correlation between low levels of adiponectin in the body and cancer risk, suggest adiponectin may be the third gene linked to breast cancer among women with no previous family history of breast cancer. If confirmed through additional studies, adiponectin could be used along with TGF-beta and CHEK2, genes that have already been linked to breast cancer, to create a genetic testing model that will allow clinicians to more accurately predict breast cancer risk.

Clinicians currently rely on epidemiologic models to predict breast cancer risk. The most common is the GAIL model, which looks at a number of factors including a woman's current age, the age she began menstruating, her age at menopause, age of first live birth, previous biopsies and family history.

"All we know is that one in eight women will get breast cancer somehow, for some reason," says Dr. Kaklamani. "One explanation for this is genetic background, and the adiponectin gene is one that may be responsible. By pinpointing which genes are associated with breast cancer risk, we can better predict risk, and ultimately may be able to enhance efforts for breast cancer prevention," adds Kaklamani.

Genetic testing is already being used among women with a strong family history of breast cancer to determine if the BRCA genes are present, which have been linked to hereditary breast cancer. However, the vast majority of women diagnosed with breast cancer each year do not have familial breast cancer, leaving a large number of breast cancers unexplained.

"With further research and testing, our hope is that some day all women may be able to proactively test their genetic risk for breast cancer. By doing so, those found to have a high risk could work with their physician to take preventative measures that may lower their risk and aid in early detection, such as having frequent mammograms and undergoing a breast MRI," said Kaklamani. "This is still in the distant future, however each day researchers take one step closer," adds Kaklamani.

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About Northwestern Memorial Hospital

Northwestern Memorial Hospital is one of the country's premier academic medical centers and is the primary teaching hospital of the Northwestern University Feinberg School of Medicine. Northwestern Memorial and its Prentice Women's Hospital and Stone Institute of Psychiatry have 897 beds along with 1,424 affiliated physicians and 6,464 employees. Northwestern Memorial is recognized for providing state-of-the-art patient care and exemplary clinical and surgical advancements in the areas of cardiothoracic and vascular care, gastroenterology, neurology and neurosurgery, oncology, organ and bone marrow transplantation, and women's health.

Northwestern Memorial received the prestigious 2005 National Quality Health Care Award and is listed in eight specialties in U.S. News & World Report's 2007 rankings for "America's Best Hospitals." For seven years running, Northwestern Memorial has been rated among the nation's "100 Best Companies for Working Mothers" by Working Mother magazine and has been chosen by Chicagoans for more than a decade as their "most preferred hospital" according to the National Research Corporation's annual survey. Northwestern Memorial carries the Magnet status designation in nursing, the highest recognition possible for patient care and nursing excellence.

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