Risk Stratification in Breast Cancer Screening — Managing Proactive Measures for Women Who Are at Higher Risk

The start of population screening for breast cancer was a turning point in the way the world sees this condition. Nowadays, the majority of breast cancers in the United States are diagnosed due to an abnormal screening study, and interestingly, a significant number of those cases are first brought to attention by the patient. This is why it’s so important to get accurate health histories from patients. 

Findings suggest that proactive screening for breast cancer both reduces the odds of dying of breast cancer and facilitates the use of early treatment. Breast cancer mortality has dropped dramatically since the 1980s, and both earlier detection through screening and improvements in breast cancer treatment are responsible for this reduction in mortality.

The acknowledgment of patients who are at high risk of breast cancer development is essential not only to decrease numbers and improve mortality or epidemiological rates but, most importantly, it is an action of humanity and a life-changing measure towards women’s health.  

High-Risk Patients for Breast Cancer Development

The risk categories are grouped according to the lifetime risk of being diagnosed with breast cancer (not the risk of dying due to breast cancer). Although there is no standardization or consensus about the exact percentages of lifetime risk of developing breast cancer within each risk category, generally, the following risk categories are used: average is less than 15 percent, moderate is approximately 15 to 20 percent, and high is greater than 20 percent lifetime risk.

Significant factors used to determine a risk category based on a patient’s history are:

• Personal history of breast, ovarian, tubal, or peritoneal cancer
• Family history of breast, ovarian, tubal, or peritoneal cancer
• Ancestry (eg, Ashkenazi Jewish) associated with BRCA1 or 2 mutations
• Known carrier of a pathogenic mutation for a hereditary breast and ovarian cancer syndrome in self or relative
• Mammographic breast density
• Previous breast biopsy indicating high-risk lesion (eg, atypical hyperplasia)
• Age of menarche, age at first live birth, number of pregnancies, and menopausal status
• Radiotherapy to the chest between age 10 and 30 years

One of the most critical points is the family history of gynecologic cancer. However, this information is not always available. 

Dr. Stephanie Graff, Director of Breast Oncology at the Lifespan Cancer Institute at Brown University, tells SurvivorNet Connect that she often has to work around patients not knowing their full family health history. 

“I feel like families are complicated, and not all of us know the details of our families. So if you don’t necessarily have a family that you’re close to or that you have all the details, try to find who that one person in your family is that you could maybe ask those questions to and sort out what the details are,” Dr. Graff suggests. 

“I think that the farther back generationally we go in our family tree, the less likely women are to use words like breast and ovary.”

We know that several models have been developed to provide a more precise assessment of breast cancer risk, with some even estimating the likelihood of carrying BRCA1 and BRCA2 mutations. These models differ in their focus; some emphasize family history, while others incorporate personal factors like prior breast biopsies, reproductive history, and breast density as determined by mammography.

Dr. Graff suggests encouraging patients to be proactive.

“There are numerous online calculators, and [they] can schedule time with [their] gynecologist, primary care doctor, or family practitioner,” she explains. 

Standard Practice Management of High-Risk Patients

For individuals with an estimated lifetime breast cancer risk above 20 percent, it is strongly recommended to add a supplemental MRI screening in addition to regular mammography, following guidelines from leading organizations. 

As a standard practice, each screening method is performed annually and scheduled six months apart. However, the ideal screening interval remains undetermined, and some institutions may conduct both tests concomitantly. 

Additionally, referring these patients to genetic counseling, if not previously done, and to a high-risk clinic to evaluate potential risk-reduction strategies is also suggested.

The healthcare provider should offer ultrasound screening in specific cases where the patient cannot undergo an MRI (phobia, financial concerns, absence of technology). There is limited evidence that contrast-enhanced mammography may have a role in this setting as well, although further data are needed before this technique is routinely adopted into practice 

Sharing the Accountability of Care With Patients

It is crucial to raise the patient’s awareness of the meaning of risk stratification and share future decisions regarding screening. This practice has proven to increase the patient’s commitment to his care and strengthen communication power. 

Dr. Graff suggests going over the options for high-risk women with patients and letting them know they have a say in what feels right to them.

“If you’re identified as having one of the genes that increase the risk of breast cancer, will you be a candidate for some additional testing, additional screening medicines to reduce your risk, or even surgery to reduce your risk? That doesn’t mean that you have to do those things,” she explains.

In this context, it’s critical to actively discuss and highlight essential information, including: 

• The likelihood is that an individual, even if they are in a high-risk group, will not develop breast cancer, especially over a five-year period, unless they are one of the relatively few people with known high-risk genetic mutations (eg, BRCA, TP53).
• Screening may result in over-diagnosis, which means finding an abnormality that results in further testing and treatment, although had it not been found, it would not have caused harm to the patient.
• A patient may experience anxiety about the evaluation, diagnosis, and treatment.

“I believe that information is power, and if you have the right information, then you can figure out what tools make the most sense for you to use,” Dr. Graff says.