Era of Hope 2011 Investigator Vignette

Title: Cancer Worry and Risk Knowledge in 18-24-Year Old Daughters of BRCA1 and BRCA2 Mutation Carriers

Investigator: Andrea Farkus Patenaude, PhD; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA

The focus of our research is this next generation of young women who are the daughters of BRCA1 and 2 mutation carriers who—and who therefore themselves are at high potential risk for breast and ovarian cancer. Mutation carriers are recommended to begin screening at age 25 and to consider risk reduction options such as prophylactic mastectomy and oophorectomy. We would like to make sure that these young women understand what their risks mean for them and understand when to seek medical counsel about them.

Overall women who carry BRCA1 and 2 mutations are at very high risk of breast cancer from approximately 56% to 85% lifetime risk of breast cancer. And the breast cancer often starts many years, even decades before breast cancer is commonly seen in the general population. They are also at risk for ovarian cancer, very high risks that go from—up to 40% risk of ovarian cancer as opposed to the normal population risk which is somewhere around 1%.

Daughters of these women are at 50/50 chance of inheriting the mutations that their mothers carry. And therefore they have a 50% risk of actually carrying these very high risks of breast and ovarian cancer.

Most of these young women have been told by their mothers when they were young about the fact that the mother was a mutation carrier, but this is very complicated information and we realize that there may well be difficulties in transmission of all of that information from mother to daughter. And there are also a variety of reasons why it’s difficult for daughters and mothers to talk about this. This is very emotionally laden information in many families. There may be a lot of concern about the mother’s health on the part of the daughter and so it may be hard to ask her mother a lot of questions about what does this really mean for you or what does it really mean for me?

So this project interviews 40 young adult women from the three Harvard teaching hospitals, the Dana Farber, the Beth Israel, and the Mass General. We chose the ages 18 to 24 because 18 is the first age at which most people think it’s right to offer genetic testing for BRCA-1 and 2 to adults rather than testing in childhood when the parent would make the decision about whether the child would get the testing. And 25 is the age at which many people are encouraged to start screening, so these young women are in kind of an in-between time and we think it may be a teachable moment when they may be able to absorb some of this information without having to act on it right away.

So we have a questionnaire that included the brief symptom inventory, which is a broadly used measure of general distress in the population, and the impact of events scale, where we used hereditary cancer as the event, and we looked also at breast cancer knowledge, hereditary breast cancer knowledge, to see what was their understanding relative to older women who were seeking counseling.

We were very interested also how does it affect their thinking about the future, how does it affect their thinking about how much education they’re going to get, when they’re going to have their children, how do they talk about it with their significant others.

Eighty percent of the daughters we spoke to completed the intervention. It was really more a matter of contacting them on their cell phones that was probably the hardest thing it turns out—they’re a very mobile group and so getting them to actually schedule the interview was the hard part. But they were actually interested in this topic and it was remarkable to me how many of them seemed to really value the opportunity to talk about it.

Forty percent of them told us that they worry about it a great deal or to an extreme even and that was similar to what we found on the impact of events scale where a similar percentage were shown to have very high levels of cancer-related distress. They weren’t worried and anxious people generally, but they were worried and anxious about breast cancer. Many of them have this kind of belief that they’re going to get breast cancer and it’s only a matter of when and they know a little bit about the genes and the mutations but they have incomplete knowledge.

But a quarter of them were also quite worried about their children’s hereditary predisposition to breast and ovarian cancer. So we do feel that it’s going to be very important to develop an intervention and we’re beginning using what the women have told us using their words and to try in an age-appropriate way not to frighten them but to offer clear information.

So we are thinking that this is going to be a very important resource for young women to turn to and one that can help them to get to the screening they need by age 25. It does take some time to think all this through. It is a lot of information and we want to give them some time to make sure they understand that 25 is an important time for them to seek medical counsel and to get the kind of preventive care that they need.

So we are now as the last part of the Idea Award developing a little pilot and we will test it with 10 additional young women who are the daughters of mutation carriers to see whether it seems to meet their needs, whether it will be useful to them in getting them to doctors or genetic counselors or potentially genetic testing but most important that they start their screening at age 25 which is typically not done even though that is the recommendation. At our own clinics we have only about 1% of patients who really begin at age 25. So we want to make sure that percentage increases so that we can prevent all the cases of breast cancer in this young high-risk population. The genetic advances are terrific but they won’t save lives unless women actually go at the recommended ages and begin the screening that’s really important for them to have.