Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature.


Journal

Cancer genetics
ISSN: 2210-7762
Titre abrégé: Cancer Genet
Pays: United States
ID NLM: 101539150

Informations de publication

Date de publication:
Apr 2024
Historique:
received: 04 10 2023
accepted: 10 12 2023
medline: 18 3 2024
pubmed: 22 12 2023
entrez: 22 12 2023
Statut: ppublish

Résumé

Early detection of breast cancer would help alleviate the burden of treatment for early-stage breast cancer and help patient prognosis. There is currently no established gene panel that utilizes the potential of DNA methylation as a molecular signature for the early detection of breast cancer. This systematic review aims to identify the optimal methylation biomarkers for a non-invasive liquid biopsy assay and the gaps in knowledge regarding biomarkers for early detection of breast cancer. Following the PRISMA-ScR method, Pubmed and Google Scholar was searched for publications related to methylation biomarkers in breast cancer over a five-year period. Eligible publications were mined for key data fields such as study aims, cohort demographics, types of breast cancer studied, technologies used, and outcomes. Data was analyzed to address the objectives of the review. Literature search identified 112 studies of which based on eligibility criteria, 13 studies were included. 28 potential methylation gene targets were identified, of which 23 were methylated at the promoter region, 1 was methylated in the body of the gene and 4 were methylated at yet to be identified locations. Our evaluation shows that at minimum APC, RASSFI, and FOXA1 genes would be a promising set of genes to start with for the early detection of breast cancer, based on the sensitivity and specificity outlined in the studies. Prospective studies are needed to optimize biomarkers for broader impact in early detection of breast cancer.

Sections du résumé

BACKGROUND BACKGROUND
Early detection of breast cancer would help alleviate the burden of treatment for early-stage breast cancer and help patient prognosis. There is currently no established gene panel that utilizes the potential of DNA methylation as a molecular signature for the early detection of breast cancer. This systematic review aims to identify the optimal methylation biomarkers for a non-invasive liquid biopsy assay and the gaps in knowledge regarding biomarkers for early detection of breast cancer.
METHODS METHODS
Following the PRISMA-ScR method, Pubmed and Google Scholar was searched for publications related to methylation biomarkers in breast cancer over a five-year period. Eligible publications were mined for key data fields such as study aims, cohort demographics, types of breast cancer studied, technologies used, and outcomes. Data was analyzed to address the objectives of the review.
RESULTS RESULTS
Literature search identified 112 studies of which based on eligibility criteria, 13 studies were included. 28 potential methylation gene targets were identified, of which 23 were methylated at the promoter region, 1 was methylated in the body of the gene and 4 were methylated at yet to be identified locations.
CONCLUSIONS CONCLUSIONS
Our evaluation shows that at minimum APC, RASSFI, and FOXA1 genes would be a promising set of genes to start with for the early detection of breast cancer, based on the sensitivity and specificity outlined in the studies. Prospective studies are needed to optimize biomarkers for broader impact in early detection of breast cancer.

Identifiants

pubmed: 38134587
pii: S2210-7762(23)00181-3
doi: 10.1016/j.cancergen.2023.12.003
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Systematic Review Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1-8

Informations de copyright

Copyright © 2023. Published by Elsevier Inc.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors have no relevant financial or non-financial interests to disclose.

Auteurs

Tessa Gonzalez (T)

Division of Precision Medicine and Cytogenetics, Department of Pathology, Medical College of Wisconsin, CT, USA.

Qian Nie (Q)

Division of Precision Medicine and Cytogenetics, Department of Pathology, Medical College of Wisconsin, CT, USA.

Lubna N Chaudhary (LN)

Division of Division of Hematology/Oncology, Department of Medicine, Medical College of Wisconsin, CT, USA.

Donald Basel (D)

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, CT, USA.

Honey V Reddi (HV)

Division of Precision Medicine and Cytogenetics, Department of Pathology, Medical College of Wisconsin, CT, USA. Electronic address: hreddi@mcw.edu.

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Classifications MeSH