Analysis of ductal carcinoma in situ by self-reported race reveals molecular differences related to outcome

• Published in: Breast cancer research : BCR 2024-09, Vol.26 (1), p.127-15, Article 127
• Main Authors: Strand, Siri H, Houlahan, Kathleen E, Branch, Vernal, Lynch, Thomas, Rivero-Guitiérrez, Belén, Harmon, Bryan, Couch, Fergus, Gallagher, Kristalyn, Kilgore, Mark, Wei, Shi, DeMichele, Angela, King, Tari, McAuliffe, Priscilla, Curtis, Christina, Owzar, Kouros, Marks, Jeffrey R, Colditz, Graham A, Hwang, E Shelley, West, Robert B
• Format: Article
• Language: English
• Subjects: Adult; Aged; Biomarkers, Tumor - genetics; Black or African American - genetics; Black people; Breast cancer; Breast carcinoma; Breast Neoplasms - ethnology; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cancer; Cancer therapies; Carcinoma, Ductal; Carcinoma, Intraductal, Noninfiltrating - ethnology; Carcinoma, Intraductal, Noninfiltrating - genetics; Carcinoma, Intraductal, Noninfiltrating - pathology; Case-Control Studies; Copy number; Development and progression; DNA Copy Number Variations; Ductal carcinoma in situ; ErbB-2 protein; Ethnicity; Female; Gene expression; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Genes; Humans; Hypothesis testing; Lumpectomy; Mammography; Mastectomy; Medical research; Metadata; Middle Aged; Molecular modelling; Oncology, Experimental; Outcome; Prognosis; Progression; Race; Radiation; Receptor, ErbB-2 - genetics; Receptor, ErbB-2 - metabolism; Receptors, Estrogen - metabolism; Recurrence; Self Report; Statistical power; Tumor microenvironment; Tumor Microenvironment - genetics; White - genetics; White people; White women; Womens health
• ISSN: 1465-542X; 1465-5411; 1465-542X
• DOI: 10.1186/s13058-024-01885-8

Ductal carcinoma in situ (DCIS) is a non-obligate precursor to invasive breast cancer (IBC). Studies have indicated differences in DCIS outcome based on race or ethnicity, but molecular differences have not been investigated. We examined the molecular profile of DCIS by self-reported race (SRR) and outcome groups in Black (n = 99) and White (n = 191) women in a large DCIS case-control cohort study with longitudinal follow up. Gene expression and pathway analyses suggested that different genes and pathways are involved in diagnosis and ipsilateral breast outcome (DCIS or IBC) after DCIS treatment in White versus Black women. We identified differences in ER and HER2 expression, tumor microenvironment composition, and copy number variations by SRR and outcome groups. Our results suggest that different molecular mechanisms drive initiation and subsequent ipsilateral breast events in Black versus White women.