Ann H Partridge1,2, Laura C Collins3,4, Yaileen D Guzmán-Arocho5,1, Shoshana M Rosenberg1,2, Judy E Garber1,2, Hilde Vardeh6, Philip D Poorvu1,2, Kathryn J Ruddy7, Gregory Kirkner2, Craig Snow2, Rulla M Tamimi8, Jeffrey Peppercorn1,9, Lidia Schapira10, Virginia F Borges11, Steven E Come5,1, Elena F Brachtel12, Jonathan D Marotti13,14, Ellen Warner15. 1. Harvard Medical School, Boston, MA, USA. 2. Dana-Farber Cancer Institute, Boston, MA, USA. 3. Beth Israel Deaconess Medical Center, Boston, MA, USA. lcollins@bidmc.harvard.edu. 4. Harvard Medical School, Boston, MA, USA. lcollins@bidmc.harvard.edu. 5. Beth Israel Deaconess Medical Center, Boston, MA, USA. 6. Emerson Hospital, Concord, MA, USA. 7. Mayo Clinic, Rochester, MN, USA. 8. Weill Cornell Medicine, New York, NY, USA. 9. Massachusetts General Hospital, Boston, MA, USA. 10. Stanford Cancer Institute, Stanford University, Palo Alto, CA, USA. 11. University of Colorado Denver, Aurora, CO, USA. 12. Maastricht University Medical Center, Maastricht, The Netherlands. 13. Darmouth-Hitchcock Medical Center, Lebanon, NH, USA. 14. Geisel School of Medicine at Dartmouth, Lebanon, NH, USA. 15. Sunnybrook Health Sciences Centre, Toronto, ON, USA.
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.
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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