Family History of Cancer and Genetic Testing

Although all cancers result from genetic errors (also called mutations), most cancers develop over time as multiple mutations accumulate in single cells. This can be due to things like aging or the environment. However, in some families, an inherited risk factor can be identified that causes increased cancer risk. This is true in at least 10% of breast cancers. Inherited risk can come from either side of the family, and the risk on each side is considered separately.

Every person treated for breast cancer at the Margie Petersen Breast Center has their personal and family health history considered. If needed, a referral for Hereditary Cancer Risk Consultation is made, and genetic testing may be done. Those with the highest likelihood of having a mutation identified are those with the personal or family history risk factors listed below. However, there is a growing recognition of the role of inherited risk for breast cancer, with some guidelines now recommending that ALL women with breast cancer be offered genetic testing. As we have Genetics expertise on site at the Breast Center, we will always be able to provide the most current information and recommendations to our patients.

Mother and daughter
Inherited Breast Cancer Risks

Factors That Significantly Increase the Risk for Inherited Breast Cancer Include:

  • Your breast cancer was diagnosed at an early age (before 50 years of age)
  • You have more than one cancer yourself
  • You are a male with breast cancer
  • You have one close relative with the following:
    • Ovarian cancer
    • Male breast cancer
    • Pancreatic Cancer
    • Breast cancer under age 50
    • Aggressive prostate cancer (metastatic or high grade)
    • Your cancer has certain pathologic findings, such as “triple negative” breast cancer
    • You have a certain ethnic heritage background (example: Ashkenazi Jewish)
    • There are other patterns of excess cancers in close relatives, especially if onset before 50 (like colon, uterine, prostate, or stomach)
Inherited Mutations

Inherited Mutations

Inherited mutations in the BRCA1 and BRCA2 genes are the most common cause of inherited breast cancer risk. However, a number of other inherited gene errors can contribute to breast cancer risk. This includes over a dozen breast cancer genes like PALB2, CHEK2, and ATM. Therefore, every patient seen in our Genetics Program will be offered comprehensive panel testing to identify a wide range of possible inherited genetic mutations. Many of the genes included on panel testing have similar jobs in the body – to direct certain growth regulation and cell repair functions. Mutations may make the gene unable to work correctly. Inheriting a gene mutation does not always mean that cancer will develop, but makes the risk of developing a cancer higher.

Family traditions

If testing is done and a mutation is identified, it gives information about your subsequent cancer risk and can help direct risk control strategies. Even in families with strong indications of inherited risk, a specific known mutation may not always be found. Risk for future cancers can also be estimated using clinical factors and risk models. If you are found to be at higher risk for future cancers, management options such as risk reducing (“prophylactic”) surgery, specialized imaging studies like breast MRI, medication use, and lifestyle changes will be discussed. Test results also help us estimate breast and other cancer risks for your close relatives.

Happy elderly woman with daughter outdoors
Lifetime Risks

Lifetime Risk

  General Population With a BRCA 1 or 2 mutation
Breast cancer in women ~ 12.5% 40-87%
Second primary breast cancer 4-11% 20-64%
Ovarian cancer < 1.5% 16-44%
Prostate cancer 16% > 20%
Male breast cancer 0.05% 1-7%
Pancreatic cancer < 1% < 7%
High Risk Program

High Risk Program

At the Margie Petersen Breast Center, we offer a High Risk Program to manage and navigate women, who are at increased risk for breast cancer, through their care options. The High Risk Program was created to take the stress out of breast cancer screening and help coordinate preventative measures against developing cancer in the future. Each patient will meet with a Breast Specialist to create a personalized plan of action based on their family history, personal history, and genetic testing, if applicable. Working alongside our Genetic Counselors, the High Risk Program provides a pathway for those individuals found with both positive and negative genetic mutations. We understand that in some cases a patient may have an extensive family history yet come back negative for any genetic mutations. At the High Risk Program, we still want to coordinate your care and help you feel comfortable with your screening options. If you are unsure of your risk for breast cancer or have more questions, feel free to contact us for more information or to schedule a consultation.

Cancer Prevention

Cancer Prevention

Increased Surveillance

  • Twice yearly clinical breast exam, yearly mammogram and yearly breast MRI

Taking Medicine to Help Reduce Risk

  • Oral antiestrogen medicines like tamoxifen and raloxifene, given to treat breast cancer, can also reduce the risk of new breast cancer

Preventative Surgery

  • Some women elect to have prophylactic mastectomies to reduce risk of subsequent breast cancer. Although this will reduce breast cancer risk, studies show it does not add to life expectancy. This is because with good screening, early detection, and effective treatment, most women survive breast cancer and live their normal life. The decision for prophylactic surgery is a personal choice and should discussed with your physician.

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The Margie Petersen Breast Center at Providence Saint John’s Health Center brings you some of the finest breast health and cancer care in Southern California.

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Margie Petersen Breast Team