BRCA Testing – What you Should Know

Guest blog by Penn Medicine

Originally published at

Everyone—both men and women—is born with BRCA1 and BRCA2genes, which normally repair DNA and help suppress tumors. However, when someone is born with an error (mutation) in a BRCA1 or BRCA2 gene, the genes fail to do their tumor-suppressing work.

The risk of breast cancer for women with BRCA1/2 mutations is so heightened that the gene is named after the disease: BReast CAncer. Mutations in the genes also increase the lifetime risk of ovarian cancer, prostate cancer and melanoma.

BRCA1/2 mutations are hereditary, which means if you or a family member carry a mutation, other members of your family may also carry it.

Factors that may indicate a family history of BRCA1/2 mutations include:

  • A breast cancer diagnosis before age 50
  • Instances of breast and ovarian cancers in the same woman or side of family
  • Male breast cancer
  • Cancer in both breasts

However, if you have a BRCA1 or BRCA2 gene mutation, there are steps you can take to reduce and manage your cancer risk.

BRCA Research, Treatment and Prevention Center at Penn

The first of its kind, Penn Medicine’s Basser Center for BRCA is a comprehensive program devoted to eradicating the devastating effects of BRCA-related cancers. With support from the Abramson Cancer Center, the Basser Center for BRCA sits at the very forefront of research, treatment and prevention of hereditary cancers.

Home to many of the most experienced leaders in the field, the Basser Center is led by Executive Director Susan Domchek, MD, who, along with Director of Genetics Kate Nathanson, MD, has made Basser the nucleus of BRCA gene research and testing in the country.

But the work being done at Basser isn’t just investigative and clinical. The Basser team develops relationships with their patients that can last years. Being hereditary, BRCA gene mutations are often shared by family members, which means the Basser team may end up working with generations of mutation carriers—mothers, fathers, daughters, sons and grandchildren.

“We’re in it for the long term with families,” said Dr. Domchek. “We’re with these women through dating, marriage and children. It’s a true privilege that happens so rarely in medicine.”

A global nexus of BRCA-related research and treatment, the Basser Center fosters innovation both at Penn and worldwide. Various Basser Grants are available to scientists, clinicians and investigators whose visionary BRCA1/2 work deserves support. The annual Basser Global Prize provides $100,000 to one chosen luminary in the field.

The Basser Scientific Symposium, held every May, offers a comprehensive “Update on Hereditary Cancer.” Experts from around the world are invited to present on the many advances in the research of heritable cancers as well as the medical management of BRCA1/2 mutation carriers.

Among those many new and cutting-edge advancements is the Basser Center’s BFOR study.

Genetic Testing Through the BRCA Founder Outreach Study

A new research initiative being pioneered at Penn’s Basser Center and other cancer centers across the country the BRCA Founder Outreach Study—or just the BFOR study—is dedicated to developing and integrating new methods of genetic testing into medical care.

In the past, BRCA-related genetic testing was reserved for men and women with a known personal or family history of breast cancer, ovarian cancer or prostate cancer. But this approach misses many people who have BRCA1/2 mutations. In addition, many of those with a family and personal history of cancer do not get genetic testing. It is estimated that as many as 80% of BRCA mutation carriers in the US do not know their BRCA1 or BRCA2 status.

The BFOR study seeks to improve these numbers.

Now open in Philadelphia, New York, Boston and Los Angeles, the BFOR study is offering men and women of Ashkenazi (Eastern European) Jewish ancestry genetic testing for BRCA mutations at no cost. These mutations increase risk for breast, ovarian, prostate and other cancer. The testing is provided with medical support from experts in cancer genetics. Individuals with Ashkenazi ancestry have been selected for the study, as one in 40 have a BRCA1 or BRCA2 mutation.

After testing, results will be shared with each participant by either the participant’s PCP or a BFOR cancer genetics specialist.

The results of a BRCA test do not predict whether or not a study participant will develop cancer—but results can indicate the likelihood. Understanding if you or someone you love tests positive for a BRCA1/2 gene mutation opens the door to various approaches to cancer prevention, including early screenings, preventive surgery or medication.

Experts also believe that as much as 40% of all cases of ovarian cancer among women of Ashkenazi Jewish ancestry could be prevented through a combination of early BRCA genetic testing and risk-reducing surgery.

More people who know they’re BRCA1 or BRCA2 mutation carriers means more people who can get started on fighting cancer before they have it.

Register for the BFOR study, or visit our FAQ page for more information. Learn more about the Basser Center for BRCA and Penn’s Cancer Risk Evaluation Center


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