دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Analytical sensitivity of a method is critical in detection of low-level BRCA1 constitutional epimutation.
المؤلفون: Machaj F; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Sokolowska KE; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Borowski K; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Retfiński S; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Strapagiel D; Biobank Laboratory, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 139, 90-237, Lodz, Poland., Sobalska-Kwapis M; Biobank Laboratory, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 139, 90-237, Lodz, Poland., Huzarski T; Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Lubiński J; Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland., Wojdacz TK; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland. tomasz.wojdacz@pum.edu.pl.
المصدر: Scientific reports [Sci Rep] 2023 Sep 26; Vol. 13 (1), pp. 16102. Date of Electronic Publication: 2023 Sep 26.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Genes, BRCA1* , Labor, Obstetric*, Female ; Humans ; Pregnancy ; Research Design ; Genetic Profile ; Health Status ; BRCA1 Protein/genetics
مستخلص: 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 sufficient level of analytical sensitivity for constitutional BRCA1 methylation detection in blood samples. The study included whole blood samples from 67 healthy women, 35 with previously confirmed and 32 with no detectable BRCA1 promoter methylation for which we performed both MS-HRM based BRCA1 gene methylation screening and genome wide methylation profiling with EPIC microarray. Our results shown, that low-level BRCA1 methylation can be effectively detected in DNA extracted from blood by PCR-based MS-HRM. At the same time, EPIC microarray does not provide conclusive results to unambiguously determine the presence of BRCA1 constitutional methylation in MS-HRM epimutation positive samples. The analytical sensitivity of MS-HRM is sufficient to detect low level BRCA1 constitutional epimutation in DNA extracted from blood and BeadChip technology-based microarrays appear not to provide that level of analytical sensitivity.
(© 2023. Springer Nature Limited.)
التعليقات: Erratum in: Sci Rep. 2023 Oct 18;13(1):17772. (PMID: 37853039)
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المشرفين على المادة: 0 (BRCA1 protein, human)
0 (BRCA1 Protein)
تواريخ الأحداث: Date Created: 20230926 Date Completed: 20230928 Latest Revision: 20231121
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10522570
DOI: 10.1038/s41598-023-43276-7
PMID: 37752189
قاعدة البيانات: MEDLINE
الوصف
تدمد:2045-2322
DOI:10.1038/s41598-023-43276-7