Evidence map›Paper›PMID 40232579›Full record

ArticleOncology and therapy2025

Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study.

Stefania Morganti, Rabia A Khan, Luis C Berrocal-Almanza, Miguel Miranda, Linlin Luo, Xiaoqing Xu, Ann H Partridge, Filipa Lynce

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Article in Oncology and therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Stefania MorgantiDana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Rabia A KhanOncology Outcomes Research, AstraZeneca, Cambridge, UK.
Luis C Berrocal-AlmanzaOncology Outcomes Research, AstraZeneca, Cambridge, UK.
Miguel MirandaOncology Outcomes Research, AstraZeneca, Cambridge, UK.
Linlin LuoOncology Outcomes Research, AstraZeneca, Gaithersburg, MD, USA.
Xiaoqing XuOncology Outcomes Research, AstraZeneca, Gaithersburg, MD, USA.
Ann H PartridgeDana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
Filipa LynceDana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. filipa_lynce@dfci.harvard.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe Oncotype DX (ODX) recurrence score (RS) is prognostic and predictive of chemotherapy benefit in patients with hormone receptor (HR)-positive/human epidermal growth factor receptor 2 (HER2)-negative early breast cancer. Data on the distribution of germline BRCA1 and/or BRCA2 pathogenic variants (gBRCA PV) by RS are limited. This retrospective, real-world study explored demographics, clinical characteristics, gBRCA testing rates, and gBRCA PV prevalence in HR-positive/HER2-negative stage I-III breast cancer, stratified by RS.

methodsDeidentified patient data (from 1 January 2011 to 30 September 2022) from US electronic health records in a nationwide database were used. Patients aged ≥ 18 years with HR-positive/HER2-negative breast cancer and a known ODX RS were included. Demographics, clinical characteristics, and genetic testing rates were compared in patients with low, intermediate, and high tumor RS. gBRCA PV prevalence was compared across categories in patients who underwent genetic testing.

resultsOf 3637 patients (median age: 62 years), 950 (26.1%) had low, 2155 (59.3%) had intermediate, and 532 (14.6%) had high tumor RS. Despite increases in genetic testing over time, gBRCA status was determined in only 31.5% (n = 1147/3637) of patients. Among tested patients, 37/1147 (3.2%) had gBRCA PV; median age was lower in gBRCA PV carriers than in noncarriers (52 versus 56 years; p = 0.034); tumors from gBRCA PV carriers had significantly higher grade (p = 0.002) and median RS (p = 0.001) than tumors from noncarriers; prevalence of gBRCA PV was highest among tested patients with high tumor RS (n = 14/185; 7.6%), but gBRCA PVs were identified among patients with intermediate (n = 19/674; 2.8%) and low (n = 4/288; 1.4%) tumor RS.

conclusionsPrevalence of gBRCA PV was highest among patients with high tumor RS, but not negligible in patients with intermediate and low tumor RS. Wider implementation of genetic testing, irrespective of ODX RS, could help optimize the management of patients with HR-positive/HER2-negative early breast cancer.

Indexed as

BRCA1/BRCA2 geneBRCA testingEarly breast cancerGenetic testingGermline BRCA pathogenic variantsGermline BRCA variant HR-positiveOncotype DX recurrence score

Identifiers

PMID40232579
PMCPMC12130413

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