BRCA Screening Tool

A Web Based Screening Tool for Breast Cancer: B-RST

When Angelina Jolie announced that she had a preventive double mastectomy in May 2013, BRCA1 became a hot topic among the general public.

According to the National Cancer Institute, BRCA1 and BRCA2 are genes that produce tumor-suppressing proteins, which help repair damaged DNA. Mutations in BRCA1 or BRCA2 (BRCA1/2) make cells more likely to undergo changes that can lead to cancer, particularly of the breast and ovary. Individuals who inherit a mutation in the BRCA1 or BRCA2 gene are therefore at substantially increased risk to develop these malignancies.

To help individuals determine whether they are at increased risk for having a mutation in one of these genes, Assistant Professor in the Emory Department of Human Genetics Cecelia Bellcross developed the B-RST genetics referral screening tool.

The B-RST genetics referral screening tool asks questions about an individual's family history to determine whether one should be referred for cancer genetic counseling regarding BRCA1/2 testing. According to the website that houses the tool, cancer genetic counseling helps people understand their risks for hereditary cancer and informs them about options such as genetic testing, cancer prevention and cancer screening, in addition to implications for family members.

"The B-RST genetics referral screening tool came out of my clinical work as a cancer genetic counselor," Bellcross says. "It was very difficult for clinicians to quickly and easily identify patients to be referred for cancer genetic counseling. I set out to create a tool that would simplify that process and balance it with accuracy, sensitivity and specificity."

Software Screen Shot
Screen Shot

The tool is an online questionnaire that both healthcare professionals and the general public can complete. The survey includes six questions that ask about any cases of breast and ovarian cancer on the maternal and paternal sides of the family. Upon completion of the survey, the tool generates a report that screens the patient as positive or negative (with respect to increased likelihood of having a BRCA 1 or mutation) and provides a brief explanation of these results. It also links to a list of resources that provide more information about cancer genetic counseling and genetic testing.

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