BRCA screening for all: The case for population-wide testing

Presenter's Name(s)

Samantha Rowden

Abstract

This study demonstrated the importance for population-wide BRCA1 and BRCA2 screening in Ashkenazi Jewish (AJ) individuals by highlighting the high prevalence of these mutations compared to the general population. Research involved 8,195 AJ males identified 175 carriers, with assessment of the carriers' female relatives revealing significant cancer risks. BRCA1 carriers faced as high as 60% cumulative cancer risk at age 60, and a higher rate of cancer in younger generations. Family history-based testing overlooks many carriers, underscoring the need for population-wide screening. Early detection enables life-saving interventions, like preventative surgery, and reduces mortality. This approach could serve as a model for other high-risk populations, and could ensure broader access to proactive cancer prevention measures.

Primary Faculty Mentor Name

Melissa Pespeni

Status

Undergraduate

Student College

College of Agriculture and Life Sciences

Program/Major

Biology

Primary Research Category

Life Sciences

Abstract only.

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BRCA screening for all: The case for population-wide testing

This study demonstrated the importance for population-wide BRCA1 and BRCA2 screening in Ashkenazi Jewish (AJ) individuals by highlighting the high prevalence of these mutations compared to the general population. Research involved 8,195 AJ males identified 175 carriers, with assessment of the carriers' female relatives revealing significant cancer risks. BRCA1 carriers faced as high as 60% cumulative cancer risk at age 60, and a higher rate of cancer in younger generations. Family history-based testing overlooks many carriers, underscoring the need for population-wide screening. Early detection enables life-saving interventions, like preventative surgery, and reduces mortality. This approach could serve as a model for other high-risk populations, and could ensure broader access to proactive cancer prevention measures.