Analytical sensitivity of a method is critical in detection of low-level BRCA1 constitutional epimutation.

ABSTRACT: Recent reports based on a substantial number of cases, warrant need for population-based research to determine implications of constitutional methylation of tumor suppressor genes such as BRCA1 occurring in healthy tissue in the prediction of cancer. However, the detection of the constitutional methylation in DNA extracted from blood has already been shown to be technologically challenging, mainly because epimutations appear to be present in blood at a very low level. The analytical sensitivity required for low-level methylation detection can be provided by NGS, but this technique is still labor and cost-intensive. We assessed if PCR-based MS-HRM and BeadChip microarray technologies, which are standardized and cost-effective technologies for methylation changes screening, provide a suffici

SUBMITTER: Machaj F 

PROVIDER: S-EPMC10522570 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature