Abstract
Circulating tumor DNA (ctDNA) sequencing studies could provide novel insights into the molecular pathology of cancer in sub-Saharan Africa. In 15 patient plasma samples collected at the time of diagnosis as part of the Ghana Breast Health Study and unselected for tumor grade and subtype, ctDNA was detected in a majority of patients based on whole- genome sequencing at high (30×) and low (0.1×) depths. Breast cancer driver copy number alterations were observed in the majority of patients.
Highlights
There is a need to increase diversity in genomic research, in African populations, where more aggressive earlyonset breast cancers are diagnosed, and non-invasive methods could provide novel insights for cancer prevention and treatment[1]
We have previously shown that ~64% of incident breast cancers in Ghana were below age 55 years and triple negative breast cancers (TNBCs) were more frequent than in predominantly
Circulating tumor DNA fractions of Ghanaian women at the time of breast cancer diagnosis The 30× WGS-cell-free DNA (cfDNA) analysis indicated that all 15 breast cancer patients had at least 1% of ctDNA fraction out of total cfDNA
Summary
There is a need to increase diversity in genomic research, in African populations, where more aggressive earlyonset breast cancers are diagnosed, and non-invasive methods could provide novel insights for cancer prevention and treatment[1]. This would have both regional and global impacts. Much of the literature has focused on ctDNA as an early detection/diagnosis and prognostic tool in high-income countries where it is not yet known whether ctDNA is a more sensitive marker than mammography for early-stage cancer detection[5] It is not known whether it can reduce mortality from breast cancer in populations with mammography screening programs
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