TY - JOUR
T1 - Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer
AU - Guzmán-Arocho, Yaileen D.
AU - Rosenberg, Shoshana M.
AU - Garber, Judy E.
AU - Vardeh, Hilde
AU - Poorvu, Philip D.
AU - Ruddy, Kathryn J.
AU - Kirkner, Gregory
AU - Snow, Craig
AU - Tamimi, Rulla M.
AU - Peppercorn, Jeffrey
AU - Schapira, Lidia
AU - Borges, Virginia F.
AU - Come, Steven E.
AU - Brachtel, Elena F.
AU - Marotti, Jonathan D.
AU - Warner, Ellen
AU - Partridge, Ann H.
AU - Collins, Laura C.
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Nature Limited.
PY - 2022/2/1
Y1 - 2022/2/1
N2 - 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.
AB - 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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U2 - 10.1038/s41416-021-01597-2
DO - 10.1038/s41416-021-01597-2
M3 - Article
C2 - 34703009
AN - SCOPUS:85118126626
SN - 0007-0920
VL - 126
SP - 302
EP - 309
JO - British journal of cancer
JF - British journal of cancer
IS - 2
ER -