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Researcher Q+A: Why do young women get breast cancer?

Why do young women get breast cancer? And why are they more likely than older women to get an aggressive form of the disease? Might genetics play a role? That’s what a research team at the Washington University School of Medicine is trying to find out.

We sat down with co-principal investigator, Jennifer Ivanovich, MS, of the Washington University School of Medicine in St. Louis, MO to get the inside scoop on her team’s research into the genetic factors that may play a role in the development of breast cancer in young women.

In the world of breast cancer there are unfortunately many unknowns.  Why did you choose to focus your investigation on young women’s breast cancer?

Jennifer: We focused on young women for two reasons. First, little research has been directed to women less than 40 years of age who have been diagnosed with breast cancer. We know young women have the highest recurrence rate and lowest overall survival rate among all women who are diagnosed with breast cancer. Despite this clinical significance, few targeted research studies have been conducted to understand some of the underlying genetic and biological factors contributing to this difference. In essence, we need to do more for young women who have been diagnosed with breast cancer.

Second, our study is focused on the identification of genetic factors that contribute to risk of breast cancer. Women who have been diagnosed with breast cancer at a young age are more likely to have an inherited gene alteration than older women who are diagnosed with breast cancer. Young women can teach us a great deal as to why breast cancer develops.

With so many other research studies going on, what sets this study apart from the rest?

Jennifer: Unlike many studies, this research is completely focused on women who were diagnosed at a young age. Many women have told us they did not qualify for other studies because of the age at which they were diagnosed, yet they wish to help advance breast cancer research and treatment of individuals who are diagnosed. We are glad to be able to offer young women a research study in which they can participate, and we are grateful for their willingness to take part.

How does breast cancer differ in women younger than 40?

Jennifer: The underlying etiologies which distinguish breast cancer in younger women are still under investigation. We do know young women have the highest recurrence rates and the lowest overall survival rates than women who are diagnosed later. The tumors tend to be larger and higher grade, and estrogen receptor positive tumors are the most common. However, young women have a disproportionately higher percentage of ER-, PR-, Her2Neu-, and triple negative, breast cancers. We also know young women are more likely to have inherited gene alterations that signal a higher risk of developing a second primary breast cancer or other cancer types.

What types of genetic factors are you looking for?

Jennifer: Several genes, such as the BRCA1, BRCA2, TP53, CDH1 and STK11 genes, are associated with a very high risk for breast cancer. Other genes are associated with a modest risk for breast cancer including genes like BRIP1 or CHK2. And, still other genes are associated with a low risk to develop breast cancer. However, most of the genes which lead to an increased risk have not yet been identified.

Our research is focused on the discovery of genes associated with an increased risk to develop breast cancer. We believe if we can identify the genetic factors that trigger breast cancer to develop and progress; we can better understand the distinct biology of these breast cancers and ultimately utilize this information to develop targeted therapies.

Who can participate in your study?

Jennifer: We invite any woman who was diagnosed with an invasive breast cancer at age 40 or younger to participate. Eligibility is determined based on the age  of diagnosis, not the woman’s current age. For example, a woman who is now 50 years of age but who was diagnosed with breast cancer at age 33 is eligible to participate in our study.

Women do not have to live in the St. Louis region to participate. In fact, we have women who live in all 50 states participating in our study.

What can participants expect when taking part in this study?

Jennifer: Women who are eligible to participate in our study will be asked to:

  • sign a consent form,
  • provide a sample of blood,
  • sign a medical release form so we may obtain a copy of her cancer related records,
  • allow us to contact her by telephone to review her family cancer history, and
  • ask her parents and sisters to participate.

A woman’s mother, father and sisters are also invited to participate in the study. Though their participation is not required, their participation will be very beneficial to this project. These family members are asked to:

  • sign a consent form,
  • provide a sample of blood,
  • sign a release form if they have been diagnosed with any type of cancer

Participants are mailed a study kit to help facilitate the collection of the blood sample and the background materials necessary for the study. Our study pays the phlebotomy fee for any participant who is charged to have her/his blood drawn. We also provide pre-paid FedEx materials to have the sample shipped to our institution.

How will the collection of participant’s family history information factor into your analysis of their blood?

Jennifer: We are taking a comprehensive approach in our investigation of the genetic factors that contribute to risk for breast cancer. We collect information about the woman’s specific breast cancer, we obtain a sample of her blood for analysis and we collect her family cancer history. In addition we invite parents and sisters to participate as well. Collecting all of this information will allow for a detailed and comprehensive analysis.

Collecting family cancer history information allows us to assess and “score” her family cancer history. We integrate these family history scores in the design or our studies.

What do you hope to learn from this study?  When do you expect to have preliminary results to share?

Jennifer: We hope to identify genes that lead to an increased risk to develop breast cancer. This information would provide greater insight as to why some young women develop breast cancer, and hopefully lead to a greater understanding of the biological differences that explain why the breast cancers in younger women tend to be more aggressive.

Recruiting for a study of this magnitude is one of our biggest challenges. The extensive investigation we are conducting requires a very large number of people to participate. We began collaborating with the Army of Women in May 2010 and have since been able to double the number of women participating in our study. Because of this collaboration, we were able to begin our preliminary studies earlier than expected but it’s difficult to predict when we will have preliminary results to share.

What is your background? How has breast cancer affected you, aside from being the focus of  your research?

Jennifer: For my profession, I work as a clinical cancer genetic counselor. I work with families who have a family history of a variety of types of cancer. My special interest is in working with young adults who have been diagnosed with cancer.

Over 12 years ago I was working with three different women who were diagnosed with breast cancer in their mid-20s. It was at that time that I developed a support and education program for young women with breast cancer in the St. Louis region. (See our website, for more information). Interacting with these women on a regular basis and recognizing the sad fact that so little research focused on young women had been conducted to date, Dr. Paul Goodfellow and I implemented this research study. We feel very fortunate to work with so many families around the country to bring about a more positive future for young women who  have been diagnosed with breast cancer.

What does this future without breast cancer look like?

Jennifer: This future looks simply amazing!

If you were diagnosed with breast cancer at age 40 or younger and are interested in participating in the Young Women and Breast Cancer Study, please learn more and sign-up here:

Pam said...

I was able to participate in this program. I am 57 now and was 37 when I had breast cancer. I was glad there was a certain program that I was able to help Jennifer and Army of Women activities. Living in a samll town in Georgia, I do ot fit a lot of the programs that are offered. I do tell breast cancer survivor’s about Army of Women and how they might can help someone else down the road.

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