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Article

Mutational landscape of pure ductal carcinoma in situ and associations with disease prognosis and response to radiotherapy.

Breast cancer research : BCR - 8 Jul 2025

Rizvi Noor, Mucaki Eliseos J, Salmini Emily L, Zhang Monica, Trebinjac Sabina, Hahn Ezra, Paszat Lawrence, Nofech-Mozes Sharon, Hallett Michael T, Rakovitch Eileen, Dumeaux Vanessa

Abstract excerpt

BACKGROUND: Managing Ductal Carcinoma in Situ (DCIS) remains challenging due to the lack of reliable biomarkers to predict radiotherapy (RT) response, leading to both overtreatment of indolent disease and undertreatment of aggressive cases. RESULTS: Through whole-exome sequencing of 147 DCIS cases, we characterized the genomic landscape of pure DCIS and identified genetic alterations associated with the risk of...

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Identifiers

PMID: 40629431
DOI: 10.1186/s13058-025-02080-z
PMCID: PMC12236047

Genes

MUCL3
PIK3CA
SH2B2
TP53
AADACL3
DNASE2B
MGAM2
MYO7A
PDZD8
REV1

Provenance

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