Genetic Testing
5:13 pm
Tue June 18, 2013

At High Risk for Breast and Ovarian Cancer

Now that the U.S. Supreme Court has ruled companies cannot patent human genes, it may be cheaper to have a genetic test that identifies women at high risk for breast and ovarian cancer, but the test is not appropriate for most women and might provide a false sense of security. 

When Seattle writer and musician Eva Moon lost her mother to breast cancer, she worried about her own future.  Doctors like Susan Modesitt, co-director of UVA’s High Risk Breast and Ovarian Cancer Clinic, told her there could be a genetic connection – that either parent can pass  mutations in the BRCA gene to their children.

Writer & Performer Eva Moon
Writer & Performer Eva Moon

Moon decided to get tested, and determined to smile in the face of fate, and she wrote a poem inspired by Dr. Seuss:

“I do not like it in my chest. I do not like it in my breast. I do not like it here or there, I do not like it anywhere. I do not like this BRCA gene. I would rather intervene.”

Intervention could mean taking a drug called Tamoxifen for at least five years to cut breast cancer risk in half and pursuing a different strategy to minimize the risk for ovarian cancer.

For ovarian cancer risk reduction, one of the most unheralded … in half.  Also reduce endometrial … for risk reduction.

Some women – like Moon, and her better known colleague Angelina Jolie, want even greater assurance, opting to have their  breasts removed. After reconstructive surgery, Moon put a photo of her new and attractive bust on her website, and wrote a one-woman musical about the experience.  It’s called The Mutant Diaries: Unzipping My Genes.

Moon also decided to have her ovaries taken out, and Modesitt says doing so reduced her cancer risk as much as medically possible.

Now that the Supreme Court has said one company – Myriad Genetics – can not hold a patent on BRCA genes, costs for the test are expected to come down.  But Dr. Modesitt says most women will not get the answers they want from a BRCA test.

“If we test them and they have a mutation, great.  We know exactly what the problem is.  We know exactly what to do.  If they test negative, and this is the majority of the time what’s going to happen, I’m left with -- hmm either there was a mutation in the family and they didn’t get it, and they are normal risk, or there is some other mutation that we don’t know about or a combination of mutations, and they’re still at high risk, and so a negative genetic test doesn’t tell me if they’re high risk or not," says Dr. Modesitt.

For women who have several relatives who developed breast cancer at an early age, the BRCA test makes sense, but Modesitt does not recommend it for all women with breast cancer in the family.

Dr. Susan C. Modesitt
Dr. Susan C. Modesitt
Credit University of Virginia Health System

“A woman that has a grandma with breast cancer at 80, two generations removed,  that’s not the person you want to get BRCA testing, because it’s not going to be helpful.  One of the things I want to remind you is even if you have a negative BRCA test, you have up to a 15% chance of breast cancer.  We all do. Most women with breast cancer do not have a BRCA mutation.”

Future research on the human genome will likely uncover other mutations or combinations that put women at risk for breast and ovarian cancer.  In the mean time, Modesitt says it’s important for those with a strong family history to consult a genetic expert to help craft a strategy for prevention.