Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women With Invasive Breast Cancer? The Murtha Cancer Center Experience

Seth K Rummel 1, Leann A Lovejoy 1, Clesson E Turner 2, Craig D Shriver 2 3, Rachel E Ellsworth 3 4

Affiliations

PMID: 31963545
DOI: 10.3390/cancers12010234

Abstract

Currently, genetic testing is offered only to women diagnosed with breast cancer who meet a defined set of criteria and is not included as standard-of-care treatment at the time of diagnosis. Thus, a significant number of women diagnosed with breast cancer may miss the opportunity for precision medical treatment and risk management. The effects of eligibility, timing, and uptake of genetic testing were evaluated in a cohort of women with invasive breast cancer diagnosed between 2001-2018. Risk status was estimated using NCCN BRCA1/2 testing criteria and panel testing was performed for all women who had genomic DNA available. Of the 1231 women, 57.8% were eligible for genetic testing. Uptake of testing within high-risk women was 42.7% of which 6.6% pursued clinical testing only after a second tumor event. Mutation frequencies were 15.8%, 5.5%, and 4.0% in high-risk women with clinical testing, high-risk women without clinical testing, and low-risk women, respectively. More than 4% of all patients harbored pathogenic or likely pathogenic mutations detected only in the research setting. Inclusion of panel testing at the time of diagnosis would allow for appropriate surveillance and treatment strategies to be employed to reduce the risk of secondary tumors and improve patient outcome.

Keywords: BRCA1/BRCA2; breast cancer; genetic testing; standard-of-care.

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