STRONG FAMILY HISTORY OF BREAST CANCER?
What breast imaging should I be having if I have a strong family history of breast cancer? This is a common question for many women undergoing screening mammography. First, we want to determine if there could be a genetic reason for the increased risk in your family. Many women think they or their family members have had genetic testing when they have not. The current genetic evaluation looks for many genetic mutations, not just BRCA, including PALB2, Chek2, or TP53, among others. There are also genetic mutations that can make you more susceptible to environmental agents or chemicals we come into contact with everyday like ATM and RAD mutations. Some genetic mutations associated with breast cancer will overlap with other glandular cancers including ovarian, colon, uterine, pancreatic and melanoma (yes, even some skin cancers are actually cancers of the glands of the skin like melanoma). It is important to know your family history for three generations on both sides of the family. If you think there is a trend towards any of these types of cancer, you should talk to your doctor or radiologist regarding.
At the Women’s Imaging Center, we are always happy to discuss these questions because it makes a difference in what exams we may recommend. If your mother or sister had breast cancer at a young age, for example, then we may recommend that you start screening exams to include mammography or MRI at a younger age than for women at average risk. If you were to have multiple family members on the same side of the family regardless of age, you may also be at increased hereditary risk, even when we cannot find a genetic explanation. If you only had one relative with breast cancer at any age, but your family remembers may also have had colon and uterine cancer, then we look for genetic anomalies that we know cluster with these types of cancer. If a living close relative with cancers is available for testing, we will typically recommend testing of that relative before we recommend you test. If the family history is strong on both the maternal and paternal sides, then we will recommend that you have the genetic testing. Your genetic information is protected by law the Genetic Information Nondiscrimination Act (GINA) from discrimination by your insurance company or your employer, but other insurance groups like life or disability are not subject to the same law.
If you are concerned about the possibility of discovering a genetic mutation because of discriminatory reasons, you are able by law to access this information yourself at an affordable low cost with experienced genetic counselors. Companies like Invitae, Color or Myriad genetics are FDA approved, give access to any woman over 21 for genetic evaluation and are convenient and reputable. Your insurance carrier may cover genetic testing as well and usually requests the same vetted family history to ensure appropriateness. This process will involve the referring physician or genetic counselor (such as through Rocky Mountain Cancer Center) and your insurance company preauthorizing your testing. If you are declined by your insurance company for testing, don’t think that means you can’t access it. It only means that you do not meet their threshold criteria. We recommend that you re-consult with your referring clinician or radiologist to ensure there is sufficient evidence to warrant this investigation. If you and your physician feel it is warranted, then you can still pay out of pocket at a cost of $250 for breast cancer-related testing. Note that some companies such as “23 and me” are not genetic companies, they are not considered comprehensive and have not undergone the same arduous processes that those approved by the FDA have for human subjects testing.
If your genetic testing does show a deleterious mutation known to be associated with an increased risk of breast cancer, then you should undergo additional consultations with an oncologist and radiologist to determine what that means for you. If you know you are at high risk for development of breast or other glandular cancers, you should be in a high-risk imaging and clinical surveillance protocol. Some genetic mutations are highly associated with an increased risk of breast and/or ovarian cancer such as BRCA 1 and BRCA 2 mutations. That consultation will also include further discussion with your gynecologist. However, other mutations such as Lynch syndrome will overlap with breast, uterine and colon and therefore involve a team approach with your oncologist, radiologist, gynecologist and gastroenterologist for increased surveillance.
If you test negative for a deleterious mutation but feel that you are still at risk based on your strong family history, you may still follow a higher risk protocol to include some or all of the same imaging tools available for those who test positive. We know that the genetic mutations discovered at this point do not explain the whole picture and that your family may harbor a mutation for which current testing does not have an explanation yet. This many include familial spontaneous mutations, mitochondrial DNA or cytoplasm abnormalities, promoter gene errors, repair errors, pathway dysfunction. Scientists are still finding contributions to what causes breast or other cancers in some families and not in others or why some families may be more predisposed to environmental influences than others.
Imaging is stratified by risk and may be different depending on the lifetime risk which changes with age. In general, your hereditary lifetime risk for development of familial breast cancer is highest when you are younger and decreases with age (as your remaining lifetime decreases). On the other hand, the incidence of most breast cancer increases with age as your repair and immune function decreases. For example, someone with a strong genetic family history like Angie Jolie who had multiple family members develop breast or ovarian cancer at a young age has the greatest change of developing breast cancer between 30-50 or ovarian cancer between 45-70. A woman without any significant history of breast cancer is unlikely to develop breast cancer at a young age but more likely the older she becomes. A woman with a strong family history of breast cancer post-menopausally still has an increased risk but it may be secondary to other factors such as dense tissue predisposition.
At the Women’s Imaging Center, we use different imaging tools depending on these scenarios using risk stratification. For a patient deemed at higher hereditary risk at a young age, we will start imaging earlier using a combination of ultrasound, MRI or mammography. The tools are not used at the same time, to spread out the ability to find cancer across the year instead of imaging once a year only. Women with more aggressive breast cancers often develop cancer over a short duration such as months instead of years. In younger women we may elect to use less mammography as we know some patients (especially some with genetic predisposition) are at increased risk of malignancy. Women with the highest risk including BRCA mutation may start MRI at age 25 but not mammography until age 30. Because younger women typically have dense tissue, ultrasound may be needed to compliment a dense mammogram in many women regardless of family history. If an older patient with a strong family history has dense tissue (which we believe may be the risk for her family’s post-menoapusal breast cancer), we may add ultrasound on a yearly basis with the annual mammograms or alternate the exams. If this patient develops breast cancer, she is most likely to develop a slower growing breast cancer.
The Women’s Imaging Center is dedicated to providing the highest quality in affordable breast care imaging for all our patients. Our Specialized Radiologists and your Care Team are always happy to discuss the best imaging options available to you given your particular needs based on personal and family history.