Peter Hulick, MD, MMsc, Medical Geneticist at NorthShore, discusses the increased risk for breast and ovarian cancer in women who carry the BRCA1 and BRCA2 gene mutation. He responds to the recent study from the Journal of Clinical Oncology on the impacts these mutations have on women as well as identifies ways women can minimize their risk.

What are your general impressions of the new study? 
The study, particularly given its size, helps further parse out the details of risk differences between BRCA1 and BRCA2.  There have been retrospective studies that have suggested this, but here we have a prospective study that adds further evidence.  In addition, it looks at overall reduction in mortality which shows the gains go beyond the ovarian cancer risk reduction.

Who is most at risk for having the BRCA1 and BRCA2 mutation?  
There are many potential ways someone can be at risk, but certain characteristics stand out:

1. Anyone of Ashkenazi Jewish descent who has personal history of breast cancer or a personal history of ovarian cancer
2. Anyone diagnosed with breast cancer at age 45 or younger
3. Anyone diagnosed with ovarian cancer at any age

Ultimately, if you have been diagnosed with breast and or ovarian cancer, or multiple family members have, you should discuss the family history with a cancer risk specialist.

What is the difference between the two genes?  
Both genes are involved in how the body repairs DNA damage that accumulates and maintaining the “checks and balances” that control cell growth.  As this study reinforces, there are differences in cancer risks associated with each.  While the risk for ovarian and breast cancer might be somewhat lower for BRCA2 than BRCA1 (though still considered high compared to average risk), BRCA2 mutation carriers tend to have higher risk for other BRCA-related cancers (e.g. pancreatic, prostate).

What preventative measures can women engage in to minimize their risk of breast and ovarian cancer?  
The first step is to get an accurate assessment of one’s risk.  Women may still be at elevated risk even if BRCA testing is negative.  Other genes and non-genetic factors contribute to ovarian and breast cancer risk.  Depending on the risk level, certain options exist for increased screening, preventative medications or preventative risk-reducing surgery.  This is a complex and very personal decision and accurate information about risk is key.

What screening options are available for women to learn more about their risk? 
The first thing women can do is to get an accurate family history from BOTH sides of the family, then discuss with one’s physician.

What next steps would you recommend for women with the BRCA1 / BRCA2 mutation? 
I would recommend women talk to their doctors about speaking to someone familiar with cancer genetics such as a geneticist, a genetics counselor, or a gynecologist/oncologist/breast surgeon knowledgeable about the management of BRCA carriers.  There are online resources from Be Bright Pink and FORCE that can be helpful in understanding the implications of having BRCA mutation and putting in a plan to reduce risk.  As this study and others have shown, we have the ability to greatly reduce one’s risk if we know one faces these risks.