Family history is critical in breast, ovarian cancer: along with BRCA mutation testing.(Gynecology)

With the availability of testing for the BRCA1 and BRCA2 gene mutations and prophylactic options for those who test positive, primary care physicians now have important reasons for taking thorough family histories concerning breast and ovarian cancer, an area that may have been glossed over in the past.

"Primary care physicians are busy and if something is not a priority it sometimes gets less attention. But now there are things that can be done to reduce ovarian and breast cancer risk, so it's really worth finding out these details," said Dr. Andrew Berchuck, professor of gynecologic on cology at Duke University, Durham, N.C.

Although the role of BRCA1 and BRCA2 mutations in the development of breast and ovarian cancer has been well recognized among gynecologic oncologists for almost a decade, this information, and, more importantly, newer information about prophylactic options for mutation carriers is often underappreciated by community physicians, said Dr. Johnathan Lancaster, a gynecologic oncologist and medical director of the Lifetime Cancer Screening & Diagnostic Center at the H. Lee Moffitt Cancer Center and Research Institute in Tampa, Fla.

"Once you step out of the academic environment, the awareness of ob.gyns, and other primary care physicians about the importance of breast and ovarian cancer family history falls off and becomes very, very patchy," he said.

"Almost all physicians will ask a patient if she smokes, but when it comes to family history of breast cancer, one of the most common female cancers, and ovarian cancer, the leading gynecologic cancer killer in women, they don't always ask. Family history is a marker for the BRCA genetic mutations, which are the greatest risk factor for breast and ovarian cancer, so if you don't ask about family history, you're missing the greatest risk factor," said Dr. Lancaster, also of the University of South Florida, Tampa.

Dr. Berchuck said that primary care physicians often ask him to identify the red flags they should look for in a patient's family history "It's a clustering of breast and ovarian cancer in families, particularly breast cancer under age 50 and ovarian cancer at any age, but particularly if it's early Generally, if a patient has two or more first- or second-degree relatives who report this, you should start to think about testing [for the BRCA mutations]. Families with male breast cancer and Ashkenazi heritage also warrant testing," he said.

A critically important first step before genetic testing is simply referring possible candidates for genetic counseling--where trained experts can more accurately define the need for testing and sometimes even suggest that it is not necessary.