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Exploring the promoter regions of cancer predisposition genes in patients with triple-negative breast cancer reveals the presence of rare germline variants

1 May 2025

Abstract excerpt

BACKGROUND: Current genetic screening for predisposition to breast cancer (BC) is limited to BRCA1/2 exons and intron/exon boundaries, and limited information exists about the impact of variants in BRCA1/2 non-coding regions. The majority of alterations identified in these regions remain unclassified, but evidence of the impact of variants in the regulatory regions on cancer risk and response to treatment is...

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PMID: 40338220
DOI: 10.1093/oncolo/oyaf052

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