Navigate Up

UPMC/University of Pittsburgh Schools of the Health Sciences
For Journalists
Telephone: 412-623-4701 or 412-586-9773
Telephone: 412-647-9966
Patient & Other Inquiries

Newly-Identified Gene Mutation Could Help Explain How Breast Cancer Spreads

SAN ANTONIO, Dec. 10 – A newly-identified genetic mutation could increase our understanding of how breast cancer spreads and potentially guide treatment options for women with the disease, according to a study from Magee-Womens Research Institute (MWRI) and the University of Pittsburgh Cancer Institute (UPCI) presented today at the 2014 San Antonio Breast Cancer Symposium

This research represents the most comprehensive analysis to date of genomic changes that occur in breast cancer progression and indicate the extensive changes that happen during the spread of the disease.

Researchers from MWRI and UPCI sequenced frozen breast tumor samples from six patients, beginning with the primary tumor when the cancer was first diagnosed through the progression of metastatic disease.  Using multiple sequencing techniques, the team identified a new gene created by two separate genes that fused together as a result of unstable DNA.  This fusion gene was identified in a metastatic tumor sample and is believed to play a part in the spread of the original breast cancer.

“We applied all of our sequencing technologies to the tumors in order to understand the changes that occur between the first breast cancer occurrence and late-stage disease,” said Ryan Hartmaier, a research instructor at the University of Pittsburgh and lead author of the study.

Since several types of breast cancer are fueled by the hormone estrogen, estrogen blocking treatment is often recommended to prevent the disease from spreading. However, the fusion gene identified did not  respond to estrogen blocking treatment, contributing to the breast cancer’s spread.

“This research helps us further understand the genomic landscape of metastatic breast cancer,” said Adrian Lee, Ph.D., the study’s senior author, director of the Women’s Cancer Research Center and professor of pharmacology, chemical biology and human genetics Pitt.

“The new class of genetic changes identified take us another step further in personalized medicine and could change the way we treat certain patients if we are able to identify who will develop this genetic mutation.”

This study was funded by a CDMRP postdoctoral fellowship awarded to Dr. Hartmaier, the Breast Cancer Research Foundation, Susan G. Komen for the Cure, Fashion Footwear Association of New York and UPCI.

©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by Healthwise, Incorporated. To learn more, visit

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, gender identity, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

Pittsburgh, PA, USA