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Epidemiology

Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer

British Journal of Cancer volume 126, pages 302–309 (2022)Cite this article

Subjects

Abstract

Background

Breast cancer in young women is more likely to have higher risk features and be associated with germline BRCA1/BRCA2 mutations. We present the clinicopathologic features of breast cancers in a prospective cohort of young women, and associations between surrogate molecular subtype and BRCA1/BRCA2 mutation status.

Methods

Histopathological features, biomarker status, tumour stage and BRCA status were collected. Invasive tumours were categorised as luminal A-like (ER + and/or PR + , HER2−, grade 1/2), luminal B-like (ER + and/or PR + , HER2 + , or ER + and/or PR + , HER2−, and grade 3), HER2-enriched (ER/PR−, HER2 + ) or triple-negative.

Results

In all, 57.3% (654/1143) of invasive tumours were high grade. In total, 32.9% were luminal A-like, 42.4% luminal B-like, 8.3% HER2-enriched, and 16.4% triple-negative. Among different age groups, there were no differences in molecular phenotype, stage, grade or histopathology. 11% (131) of tumours were from BRCA mutation carriers; 64.1% BRCA1 (63.1% triple-negative), and 35.9% BRCA2 (55.3% luminal B-like).

Discussion

The opportunity to provide comparisons across young age groups, BRCA mutation status, surrogate molecular phenotype, and the identification of more aggressive hormone receptor-positive phenotypes in this population provides direction for future work to further understand and improve disparate outcomes for young women with luminal B-like cancers, particularly BRCA2-associated cancers, with potential implications for tailored prevention and treatment.

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Fig. 1: Profile of study population.
Fig. 2: Distribution of molecular phenotypes among BRCA1 + , BRCA2 + , no mutation detected/VUS, and not tested.

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Data availability

Available from the corresponding author on reasonable request.

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Acknowledgements

Abstract presented at the annual meeting of San Antonio Breast Cancer Symposium 2019 [56].

Funding

This work was supported by the Susan G. Komen Foundation and Breast Cancer Research Foundation.

Author information

Author notes

  1. These authors contributed equally: Ann H. Partridge, Laura C. Collins.

Authors and Affiliations

  1. Beth Israel Deaconess Medical Center, Boston, MA, USA

    Yaileen D. Guzmán-Arocho, Steven E. Come & Laura C. Collins

  2. Harvard Medical School, Boston, MA, USA

    Yaileen D. Guzmán-Arocho, Shoshana M. Rosenberg, Judy E. Garber, Philip D. Poorvu, Jeffrey Peppercorn, Steven E. Come, Ann H. Partridge & Laura C. Collins

  3. Dana-Farber Cancer Institute, Boston, MA, USA

    Shoshana M. Rosenberg, Judy E. Garber, Philip D. Poorvu, Gregory Kirkner, Craig Snow & Ann H. Partridge

  4. Emerson Hospital, Concord, MA, USA

    Hilde Vardeh

  5. Mayo Clinic, Rochester, MN, USA

    Kathryn J. Ruddy

  6. Weill Cornell Medicine, New York, NY, USA

    Rulla M. Tamimi

  7. Massachusetts General Hospital, Boston, MA, USA

    Jeffrey Peppercorn

  8. Stanford Cancer Institute, Stanford University, Palo Alto, CA, USA

    Lidia Schapira

  9. University of Colorado Denver, Aurora, CO, USA

    Virginia F. Borges

  10. Maastricht University Medical Center, Maastricht, The Netherlands

    Elena F. Brachtel

  11. Darmouth-Hitchcock Medical Center, Lebanon, NH, USA

    Jonathan D. Marotti

  12. Geisel School of Medicine at Dartmouth, Lebanon, NH, USA

    Jonathan D. Marotti

  13. Sunnybrook Health Sciences Centre, Toronto, ON, USA

    Ellen Warner

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Contributions

Study design and methodology: SMR, AHP and LCC. Data collection: YDGA, HV, CS, JDM and LCC. Data analysis and interpretation: YDGA, SMR, GK, AHP and LCC. Drafting manuscript: YDGA, SMR, AHP and LCC. Critical revisions: SMR, JEG, PDP, KJR, RMT, LS, VFR, SEC, EFB, JDM, EW, AHP and LCC. All the authors approved the final version.

Corresponding author

Correspondence to Laura C. Collins.

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Institutional review board (IRB) approval for the study was obtained through the Dana–Farber/Harvard Cancer Centre and other participating centres. The study was performed in accordance with the Declaration of Helsinki and informed written consent was obtained from all the participants.

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Competing interests

Dr. Rulla Tamimi is an editor of the British Journal of Cancer. The remaining authors declare no competing interests.

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Guzmán-Arocho, Y.D., Rosenberg, S.M., Garber, J.E. et al. Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer. Br J Cancer 126, 302–309 (2022). https://doi.org/10.1038/s41416-021-01597-2

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