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متیلاسیون
The limitations to ctDNA analyses are its restriction to measurable DNA mutations, gene copy abnormalities, and potential DNA methylation abnormalities.
As indicated, point mutations, gene fusions, and methylation changes associated with the cancer can be detected through analysis of DNA or mRNA derived from these blood-borne tumour materials.
Methylation profiles in ctDNA - predicting response to chemotherapy.
Promoter hypermethylation at specific CpG sites associated with tumoursuppressor genes occurs in many cancers; therefore, methylated ctDNA is a promising biomarker.
Several studies have compared aberrant methylation in tumour tissues and matched ctDNA from blood samples, in settings such as lung, gastrointestinal137, breast138, ovarian, prostate139, testicu lar140, and head and neck cancer, and in most cases a good correlation was reported141.
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