APR 09, 2015 12:23 PM PDT

Risk of Breast, Ovarian Cancer May Differ By Type of BRCA1, BRCA2 Mutation: Study

WRITTEN BY: Ilene Schneider
In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers at the Basser Center for BRCA, the Abramson Cancer Center, and the Perelman School of Medicine at the University of Pennsylvania, identified mutations that are associated with significantly different risks of breast and ovarian cancers. Authors say the results - which show that some mutations confer higher risks of breast cancer, while other mutations show higher risks of ovarian cancer - may lead to more effective cancer risk assessment, care and prevention strategies for health care providers and carriers. The results are published in the issue of JAMA.
cancer cells
"We've made a lot of progress toward understanding how to reduce the cancer risks associated with inherited mutations in BRCA1 or BRCA2 mutations, but until now, little has been known about how cancer risks differ by the specific mutation a woman has inherited," said Timothy R. Rebbeck, PhD, professor of Epidemiology, and associate director for Population Science at Penn Medicine's Abramson Cancer Center. "The results of this study are a first step in understanding how to personalize risk assessment around a woman's specific mutation, which can help guide carriers and providers in the cancer prevention decision making process."

Rebbeck and colleagues evaluated cancer diagnoses for 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations. The team then analyzed whether the BRCA1 and BRCA2 mutation type or location was correlated to breast and/or ovarian cancer risk. He and his co-authors identified regions of both BRCA1 and BRCA2 that, when mutated, confer higher risks of ovarian cancer, and other regions that confer higher risk of breast cancer. Previously, a woman with a BRCA1 mutation would have been thought to have a 59 percent risk of breast cancer and a 34 percent risk for ovarian cancer, up until age 70. However, the new research suggests that women who carry a specific subset of BRCA mutations most commonly present in the Ashkenazi Jewish population have a higher risk of breast cancer (69 percent) and a lower risk of ovarian cancer (26 percent), for example. The important question that remains is whether these differences will change the decisions a woman makes about preventive surgery or other behaviors.

"With these new findings, we've gained knowledge of mutation-specific risks which could provide important information for risk assessment among BRCA1/2 mutation carriers," said senior author Katherine L. Nathanson, MD, associate professor of Medicine and director of Genetics in the Basser Center for BRCA at Penn's Abramson Cancer Center, "Additional research is needed to determine the absolute risks associated with different mutations, and how those differences might influence decision making and standards of care, such as preventive surgery, for carriers of BRCA1 and BRCA2 mutations."

In addition to Rebbeck and Nathanson, other Penn authors on the study include Nandita Mitra, PhD, and Fei Wan, MS, from the Center for Clinical Epidemiology and Biostatistics, and Susan M. Domchek, MD, executive director of the Basser Center for BRCA.

Source: UPenn
About the Author
  • Ilene Schneider is the owner of Schneider the Writer, a firm that provides communications for health care, high technology and service enterprises. Her specialties include public relations, media relations, advertising, journalistic writing, editing, grant writing and corporate creativity consulting services. Prior to starting her own business in 1985, Ilene was editor of the Cleveland edition of TV Guide, associate editor of School Product News (Penton Publishing) and senior public relations representative at Beckman Instruments, Inc. She was profiled in a book, How to Open and Operate a Home-Based Writing Business and listed in Who's Who of American Women, Who's Who in Advertising and Who's Who in Media and Communications. She was the recipient of the Women in Communications, Inc. Clarion Award in advertising. A graduate of the University of Pennsylvania, Ilene and her family have lived in Irvine, California, since 1978.
You May Also Like
NOV 25, 2019
Cell & Molecular Biology
NOV 25, 2019
Linking Intestinal Stem Cells with Increased Cancer Risk From a High-Fat Diet
The work, which used a mouse model, links stem cell activity with cellular fat consumption in a new way....
NOV 29, 2019
Cancer
NOV 29, 2019
How flavonoids fight against colorectal cancer
New research published in the journal Cancers reports why flavonoids can aid in reducing the risk of colorectal cancer. Flavonoids are compounds found in f...
DEC 06, 2019
Health & Medicine
DEC 06, 2019
Study finds association between hair products and breast cancer risk
For many women, hair color and style are significant components of their identity. However, troubling information from a new study about the use of hair dy...
DEC 08, 2019
Cancer
DEC 08, 2019
Is there an association between smoking marijuana and cancer?
The controversy with marijuana is only likely to continue as research studies try to understand if marijuana use is associated to an increased risk of canc...
DEC 18, 2019
Drug Discovery & Development
DEC 18, 2019
A tool that simplifies the hunt for cancer drugs
Cells have long been the internal hubs for proteins that hold a wide variety of unique functions. Disorders on how a cell synthesizes a protein can affect ...
JAN 15, 2020
Drug Discovery & Development
JAN 15, 2020
Acid-Reflux Drugs May Negatively Impact Breast Cancer Survivors
Many of us have taken some form of an acid-reflux drug—especially after a meal that causes discomfort. However, now researchers are indicating that s...
Loading Comments...