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ucsdhealthsciences: Angelina Jolie and the oncogene It’s not surprising that Angelina Jolie’s announcement that she had preventive double mastectomy is big news. You can read about it here, here, here and here  – among myriad places. The fact remains, though, that Jolie’s dilemma and decision is far from novel. It’s one faced by many women, almost all without the glare or notice of media. With that in mind, we reprise a pair of Q&As posed to breast cancer experts at UC San Diego:  Teresa Helsten, MD, assistant clinical professor in the School of Medicine’s Division of Hematology-Oncology at Moores Cancer Center and Sarah Blair, MD, associate professor of Surgery at Moores Cancer Center. Question: Angelina Jolie opted for her surgery based on the fact she carried the BRCA1 oncogene, which reportedly boosted her risk of breast cancer to 87 percent. How can a woman know if she should be tested for this genetic mutation? Helsten: Above all, any woman (or man, in the case of breast cancer) who is concerned about the possibility of carrying a genetic mutation for breast/ovarian cancer should consult with her physician. Physicians may provide counseling or refer patients to trained genetic counselors for evaluation. Things that might make a woman think about her risks include the following: A family history of breast and other cancers: Think about both sides of the family (mother’s and father’s sides) and think about family members up to and including two generations away (up to and including grandparents or grandchildren). Any family that has two or more members with breast cancer or breast and ovarian cancer on the same side of the family, particularly if anyone has had breast cancer when younger than 50 years old, or has had two separate breast cancers. Any men with breast cancer.  Breast cancer and one of the following cancers on the same side of the family: thyroid cancer, sarcoma, adrenal cancer, uterine (endometrial cancer), stomach (gastric) cancer, and leukemia/lymphoma. Being from a population at risk: People of Ashkenazi Jewish descent have a higher risk of carrying a BRCA1/2 mutation.  Women who are Ashkenazi Jewish may not need to have as strong a family history of breast and other cancers to be considered for testing. However, women of Ashkenazi Jewish descent with no personal or family history of breast cancer are probably not at risk. Q: Once tested and the gene is present, what are a woman’s options? Helsten: If a woman is found to carry a genetic mutation that increases her risks of breast and ovarian cancer, there are several things to think about: What about screening for other family members? A trained genetic counselor or physician can counsel as to who should consider testing and how. When in doubt, other family members can discuss with their own physicians. Does she want to do anything to reduce her risks of developing breast and ovarian cancer? If so, she will need to discuss carefully with her physician to help make the right decision for her as every case is unique. Options include increased surveillance (which doesn’t lower the risk of cancer, but increases chances of detection); taking risk-reducing medications (e.g., tamoxifen); and surgical removal of breasts and/or ovaries. For example, removal of both breasts by mastectomy reduces the risk of breast cancer by approximately 90-95 percent. These decisions can be very personal and very difficult, but the good news is that they almost never need to be made in a rush. It is worth taking the time to get informed in order to make a decision that is fits the individual. Q:  Does having the genetic mutation for breast cancer mean breast cancer is inevitable? Helsten: No, cancer is not inevitable, but the risks are usually quite high. Depending on the specific mutations discovered, the lifetime risks of breast cancer for BRCA1/2 carriers are estimated to be 56-84 percent. For ovarian cancer, the lifetime risks are a bit lower. They are estimated to be 36-46 percent for BRCA1 and 10-27 percent for BRCA2 mutation carriers. Q: Last year, comedian and actress Wanda Sykes underwent a double mastectomy for “stage zero breast cancer.” People are fairly familiar with stages I through IV, which denote the progressive size and spread of a tumor and its likely prognosis. What is stage 0 breast cancer? Blair: When I counsel my patients, I show them a picture to demonstrate the difference. Basically these tumors start in the duct, which is a tube that drains milk when you breast feed. Tumors that are stage 0 are confined inside the duct and cannot spread outside to other parts of the body. However, if the tumor is left alone they can eventually break through the duct and become invasive. Early treatment prevents spread of the tumor. Q:  Was Sykes’ decision to have a radical mastectomy based on her family history of breast cancer typical for a stage 0 patient? Blair: Most women are good candidates for breast conservation, which is removal of that area of the breast or lumpectomy plus radiation. I would also recommend the drug Tamoxifen for women with estrogen sensitive tumors. This drug treats the tumor itself and helps prevent future tumors. However, some women do not want to take Tamoxifen because of its side effects. For the average woman with stage 0 their lifetime risk of developing a second cancer in either breast is 20 percent. Some women with a strong family history of breast cancer, i.e. multiple relatives with breast cancer, may have a higher risk of a second cancer, particularly if they are diagnosed at a young age. These women may consider more aggressive surgical treatment to prevent future cancers.  Typically, most women do not have radical surgery but those that do have much better cosmetic outcomes than in the past. Q:  Does a diagnosis of stage 0 mean that the cancer is 100 percent curable? Blair: Unfortunately, nothing is 100 percent in medicine but there is a high likelihood of being cured.  The chance of being cured depends on the size of the tumor and its appearance under the microscope or grade.  In general the chance of being cured is greater than 90 percent. Photo courtesy of AP
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