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Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature. Cancer Genet 2024 Apr;282-283:1-8

Date

12/22/2023

Pubmed ID

38134587

DOI

10.1016/j.cancergen.2023.12.003

Scopus ID

2-s2.0-85180559446 (requires institutional sign-in at Scopus site)

Abstract

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: 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: 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: 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.

Author List

Gonzalez T, Nie Q, Chaudhary LN, Basel D, Reddi HV

Authors

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Lubna N. Chaudhary MD Associate Professor in the Medicine department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Biomarkers, Tumor
Breast Neoplasms
DNA Methylation
Early Detection of Cancer
Female
Humans
Prognosis
Sensitivity and Specificity