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open access
Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening
The 32 cancer cases comprised 16 women with International Federation of Gynecology and Obstetrics (FIGO) stage I and II HGSOC (‘early cancer’), and 16 women with FIGO stages III and IV HGSOC (‘advanced cancer’). The control group included women with benign gynecologic disease undergoing surgery (n = 24), or germline BRCA1 and BRCA2 mutation carriers without evidence of malignancy who were undergoing risk-reduction surgery (n = 8).Discussion
In
this proof of concept study, low coverage plasma DNA sequencing and
analysis for chromosomal CNVs ≥ 15 Mb detected 40 % of HGSOC.
Surprisingly, we detected similar proportions of early and advanced
stage HGSOC cancers with this approach. This finding was unexpected
because one would assume a higher detection rate in the advanced stage
cases, given the lower tumor bulk of early disease. This suggests that
the detection of ovarian tumor CNVs in plasma is not directly related to
cancer stage; other biological factors such as fractional concentration
of tumor DNA in plasma, tumor genetic heterogeneity, vascularity, and
cell turnover may also be important influences on detection rates.....
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