Risk of breast and ovarian cancer may differ by type of BRCA1, BRCA2 mutation

April 7, 2015, University of Pennsylvania School of Medicine
Intermediate magnification micrograph of a low malignant potential (LMP) mucinous ovarian tumour. H&E stain. The micrograph shows: Simple mucinous epithelium (right) and mucinous epithelium that pseudo-stratifies (left - diagnostic of a LMP tumour). Epithelium in a frond-like architecture is seen at the top of image. Credit: Nephron /Wikipedia. CC BY-SA 3.0

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 April 7 issue of JAMA.

"We've made a lot of progress toward understanding how to reduce the 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 .

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 (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 among BRCA1/2 mutation carriers," said senior author Katherine L. Nathanson, MD, associate professor of Medicine and director of Genetics in the Basser Research 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 ."

Explore further: Study shows breastfeeding, birth control may reduce ovarian cancer risk in women with BRCA mutations

More information: JAMA, doi:10.1001/jama.2014.5985

Related Stories

Study shows breastfeeding, birth control may reduce ovarian cancer risk in women with BRCA mutations

May 14, 2014
Breastfeeding, tubal ligation – also known as having one's "tubes tied" – and oral contraceptives may lower the risk of ovarian cancer for some women with BRCA gene mutations, according to a comprehensive analysis from ...

Study finds potential link between breast cancer genes and salivary gland cancer

October 8, 2014
The risk of developing cancer in a salivary gland might be higher in people with mutations in either of two genes associated with breast and ovarian cancer, according to a new study by researchers at The Ohio State University ...

Review IDs modifiers of cancer risk in BRCA1/2 carriers

May 23, 2014
(HealthDay)—Modifiers of cancer risk have been identified for BRCA1/2 mutation carriers, according to a review published online May 13 in the Journal of the National Cancer Institute.

Researcher contributes to debate on breast cancer gene screening

November 25, 2014
There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in ...

BRCAPRO model underestimates BRCA1/2 mutation risk

March 21, 2014
(HealthDay)—Use of the BRCAPRO model for assessment of the likelihood of having a germline BRCA1/BRCA2 mutation, based on age, ethnicity, and family history, may underestimate the risk of mutations, according to a study ...

Recommended for you

Scientists discover new method of diagnosing cancer with malaria protein

August 17, 2018
In a spectacular new study, researchers from the University of Copenhagen have discovered a method of diagnosing a broad range of cancers at their early stages by utilising a particular malaria protein that sticks to cancer ...

Researchers find pathways that uncover insight into development of lung cancer

August 17, 2018
Lung cancer is the leading cause of preventable cancer death. A disease of complex origin, lung cancer is usually considered to result from effects of smoking and from multiple genetic variants. One of these genetic components, ...

Developing an on-off switch for breast cancer treatment

August 17, 2018
T-cells play an important role in the body's immune system, and one of their tasks is to find and destroy infection. However, T-cells struggle to identify solid, cancerous tumors in the body. A current cancer therapy is using ...

Pregnant? Eating broccoli sprouts may reduce child's chances of breast cancer later in life

August 16, 2018
Researchers at the University of Alabama at Birmingham have found that a plant-based diet is more effective in preventing breast cancer later in life for the child if the mother consumed broccoli while pregnant. The 2018 ...

Three scientists share $500,000 prize for work on cancer therapy

August 15, 2018
Tumors once considered untreatable have disappeared and people previously given months to live are surviving for decades thanks to new therapies emerging from the work of three scientists chosen to receive a $500,000 medical ...

PARP inhibitor improves progression-free survival in patients with advanced breast cancers

August 15, 2018
In a randomized, Phase III trial led by researchers at The University of Texas MD Anderson Cancer Center, the PARP inhibitor talazoparib extended progression-free survival (PFS) and improved quality-of-life measures over ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.