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

Siri H Strand; Kathleen E Houlahan; Vernal Branch; Thomas Lynch; Belén Rivero-Guitiérrez; Bryan Harmon; Fergus Couch; Kristalyn Gallagher; Mark Kilgore; Shi Wei; Angela DeMichele; Tari King; Priscilla McAuliffe; Christina Curtis; Kouros Owzar; Jeffrey R Marks; Graham A Colditz; E Shelley Hwang; Robert B West

doi:10.1186/s13058-024-01885-8

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

Breast Cancer Res. 2024 Sep 2;26(1):127. doi: 10.1186/s13058-024-01885-8.

Authors

Siri H Strand¹, Kathleen E Houlahan^{2

3}, Vernal Branch⁴, Thomas Lynch⁵, Belén Rivero-Guitiérrez¹, Bryan Harmon⁶, Fergus Couch⁷, Kristalyn Gallagher⁸, Mark Kilgore⁹, Shi Wei¹⁰, Angela DeMichele¹¹, Tari King¹², Priscilla McAuliffe¹³, Christina Curtis^{2

3}, Kouros Owzar^{14

15}, Jeffrey R Marks⁵, Graham A Colditz¹⁶, E Shelley Hwang⁵, Robert B West¹⁷

Affiliations

¹ Department of Pathology, Stanford University School of Medicine, Stanford, CA, 94305, USA.
² Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, 94305, USA.
³ Department of Medicine, Genetics, Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.
⁴ National Breast Cancer Coalition, 2001 L Street NW, Suite 500 PMB#50111, Washington, DC, 20036, USA.
⁵ Department of Surgery, Duke University School of Medicine, Durham, NC, 27708, USA.
⁶ Department of Pathology, Montefiore Medical Center, New York City, NY, USA.
⁷ Department of Pathology, Mayo Clinic, Rochester, MN, USA.
⁸ Department of Surgery, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
⁹ Department of Pathology, University of Washington, Seattle, WA, USA.
¹⁰ Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA.
¹¹ Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹² Department of Surgery, Brigham and Women's Hospital, Boston, MA, USA.
¹³ Department of Surgery, University of Pittsburgh, Pittsburgh, PA, USA.
¹⁴ Duke Cancer Institute, Duke University School of Medicine, Durham, NC, 27708, USA.
¹⁵ Department of Biostatistics & Bioinformatics, Duke University School of Medicine, Durham, NC, 27708, USA.
¹⁶ Department of Surgery, Washington University School of Medicine, St. Louis, MO, 63110, USA.
¹⁷ Department of Pathology, Stanford University School of Medicine, Stanford, CA, 94305, USA. rbwest@stanford.edu.

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: Our results suggest that different molecular mechanisms drive initiation and subsequent ipsilateral breast events in Black versus White women.

Keywords: Ancestry; Breast cancer; Ductal carcinoma in situ; Outcome; Progression; Race; Recurrence.

MeSH terms

Adult
Aged
Biomarkers, Tumor / genetics
Black or African American / genetics
Breast Neoplasms* / ethnology
Breast Neoplasms* / genetics
Breast Neoplasms* / pathology
Carcinoma, Intraductal, Noninfiltrating* / ethnology
Carcinoma, Intraductal, Noninfiltrating* / genetics
Carcinoma, Intraductal, Noninfiltrating* / pathology
Case-Control Studies
DNA Copy Number Variations
Female
Gene Expression Profiling
Gene Expression Regulation, Neoplastic
Humans
Middle Aged
Prognosis
Receptor, ErbB-2 / genetics
Receptor, ErbB-2 / metabolism
Receptors, Estrogen / metabolism
Self Report
Tumor Microenvironment / genetics
White / genetics

Substances

Biomarkers, Tumor
Receptor, ErbB-2
Receptors, Estrogen

Abstract

MeSH terms

Substances

Grants and funding