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Reducing breast and ovarian cancer risk: a Q&A with a Fred Hutch cancer researcher

May 15, 2013

By Colleen Steelquist, Hutchinson Center Science Editor

Dr. Kathi Malone, a Fred Hutch epidemiologist, has spent her career studying what causes breast cancer and predicting the impact of those factors—including genetic history. In the wake of Angelina Jolie’s decision to have her breasts surgically removed to diminish her 87 percent risk of breast cancer due to her BRCA1 gene mutation, Malone shares her expertise in genetic determinants of breast cancer:

Who would you encourage to seek genetic testing for BRCA1 and BRCA2?

Dr. Kathi Malone

Dr. Kathi Malone

There are two main groups of women we recommend who should consider genetic counseling: those who have been diagnosed with certain types of cancer and/or those with certain patterns of cancer among their blood relatives.

Women with a personal history of breast cancer at an early age (before age 50 is a common cutoff), those who have had bilateral breast cancer, and women who have had ovarian cancer all fall into groups at higher risk of carrying a BRCA1 or BRCA2 mutation and thus should consider genetic counseling.

What if I’ve never had cancer but there’s some family history of it?

There are groups of women without a personal cancer history but with specific patterns of cancer in their family whom we encourage to seek genetic counseling and possible BRCA1/BRCA2 mutation testing. These include women who have:

  • a first-degree relative (mother or sister) affected with breast cancer before age 50 or with bilateral breast cancer
  • a first- or second-degree relative (aunt or grandmother) who had both breast and ovarian cancer
  • multiple relatives affected with breast or ovarian cancer
  • a male relative with breast cancer

Also, BRCA1/2 gene mutations have been observed to be more prevalent in individuals of Ashkenazi Jewish descent. Therefore, women with Ashkenazi ancestry who have a positive but less pronounced family history profile may still benefit from genetic counseling.

If I fall into one of these high-risk categories, do I need to take action?

Yes, being a carrier of a BRCA1 or BRCA2 gene mutation presents a lot of complexities and challenges. Women who carry one of these mutations have a much higher than average lifetime risk of developing breast and/or ovarian cancer and cannot afford to ignore the genetic side of things. They need information on their potential options for risk reduction, surveillance and risk management.

What should other women do to lower their breast cancer risk?

For other women, it is probably reasonable to focus on understanding their risk profile (calculate your risk) and assess whether there are modifiable risk factors they might change, like weight, activity level, tobacco use, etc.

For those like Jolie who have an inherited genetic mutation, how many choose to remove their breasts and/or ovaries? 

There are not a lot of data available on the proportions of BRCA1 or BRCA2 mutation carriers who move forward with risk-reduction surgery (like preventative mastectomy or oophorectomy). The decision to have risk-reduction surgery in high-risk women varies considerably across countries and within countries, and is influenced by a variety of factors such as age, childbearing status and plans, clinician views, perception of risk, and so on.

There are some indications that the rates of these procedures have been increasing over time. A recent report shows that women may initially, upon learning of their high-risk status and the options for risk reduction, opt out of risk reduction surgery but then may proceed with surgery years later. It is worth noting that risk reduction surgeries are not the only options: increased screening for cancer and the use of certain medications such as tamoxifen are some of the other options available.

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