Women Negative for BRCA Mutations Still Need Breast Cancer Screenings

An article originally published by CBS New York recently emphasized the importance of regular mammograms for detecting breast cancer, even in families with no history of mutated BRCA genes.

What are the BRCA genes?

BRCA1 and BRCA2 are two genes that scientists believe are linked to the development of breast cancer in certain individuals. Mutations to either of these genes can lead to an increased risk of developing breast cancer later in life – in both men and women.

Inherited BRCA mutations – mutations in the BRCA1 or BRCA2 genes passed to offspring from a parent – are responsible for some 5% to 10% of known breast cancers.

Scientists rely on BRCA genes to help them determine the likelihood that someone will develop breast cancer over the course of their life. However, the method is far from foolproof – a negative result on a BRCA mutation test does not in any way disqualify someone from developing breast cancer later in life.

A Family History

That’s because while the BRCA genes are valuable biomarkers for physicians, there are many other potential genetic links to breast cancer that scientists are currently unaware of.

The Alexander family hoped they might be in the clear when Priscilla Alexander took one of the first ever BRCA mutation tests, which came back negative. Priscilla’s mother and five of her cousins had breast cancer too, but none seemed to have a faulty BRCA gene. It was obvious to scientists that a link between the cancers existed, but one that couldn’t be found on a BRCA gene.

“Most women with breast cancer will not have an identifiable mutation,” emphasized Mount Sinai Hospital’s chief of breast surgery, Dr. Elisa Port. That means that while BRCA genes might be an important tool in helping diagnose potential breast cancer patients, they are far from definitive.

The Best Indicator Is Still A Screening

Due to the indefinite nature of the BRCA tests, physicians recommend regular mammograms as being the first line of defense for the early detection of breast cancer.

When certain cancers are detected early enough, they can be effectively treated with surgery alone. Only after they become more advanced do chemotherapy or radiation therapy become necessary.

The BRCA gene tests are worth taking, but they are no substitute for regular cancer screenings. Our genes are messy, complicated things – rarely will one test ever be enough to definitively rule out your risk of developing a serious medical condition.


Invasive breast cancer will affect roughly one in every eight American women at some point in their lives. Why is it important to search for other genetic links to the development of breast cancer? In what way might early detection act as prevention? Share your thoughts with Patient Worthy!

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