ctDNA versus Mammography for breast cancer diagnosis in female aged more than 40 years old: A scoping review

Abstract

Breast cancer remains a major public health concern, with mammography being the gold standard for early detection. However, mammography has limitations, including false positives, discomfort, and limited accessibility in resource-limited settings. Circulating tumor DNA (ctDNA) is an emerging biomarker that offers a non-invasive alternative for breast cancer diagnosis. This scoping review aimed to evaluate whether ctDNA has comparable sensitivity and specificity to mammography in detecting breast cancer among suspected patients. A scoping review was conducted following the PRISMA-ScR guidelines. A comprehensive literature search was performed in four databases (PubMed, Scopus, EMBASE, and EBSCO) as of September 13, 2023. Studies were included if they assessed ctDNA for breast cancer detection in suspected patients aged ≥40 years and compared its diagnostic performance with mammography. Five reviewers independently screened studies, extracted data, and performed critical appraisal using the Centre for Evidence-Based Medicine tools. The synthesis focused on sensitivity, specificity, and diagnostic performance. A total of five studies met the eligibility criteria, including three meta-analyses and two cross-sectional studies. The sensitivity of ctDNA ranged from 31.08% to 94%, while specificity ranged from 79% to 89%. The meta-analyses reported higher sensitivity (75–94%) and specificity (79–89%) compared to an individual cross-sectional study, which reported a lower sensitivity of 31.08% but a comparable specificity of 86.36%. The findings suggest ctDNA's potential as a diagnostic tool for…? The findings suggest ctDNA's potential as a diagnostic tool for breast cancer detection in suspected patients. It may serve as a non-invasive alternative or adjunct to mammography. This is particularly relevant in settings where traditional imaging methods are less accessible. However, variations in study quality, risk of bias, and patient selection criteria warrant future validation.