Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study
Abstract Introduction The 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...
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Adis, Springer Healthcare
2025-04-01
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| Series: | Oncology and Therapy |
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| Online Access: | https://doi.org/10.1007/s40487-025-00332-8 |
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| author | Stefania Morganti Rabia A. Khan Luis C. Berrocal-Almanza Miguel Miranda Linlin Luo Xiaoqing Xu Ann H. Partridge Filipa Lynce |
| author_facet | Stefania Morganti Rabia A. Khan Luis C. Berrocal-Almanza Miguel Miranda Linlin Luo Xiaoqing Xu Ann H. Partridge Filipa Lynce |
| author_sort | Stefania Morganti |
| collection | DOAJ |
| description | Abstract Introduction The 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. Methods Deidentified 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. Results Of 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. Conclusions Prevalence 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. Graphical Abstract |
| format | Article |
| id | doaj-art-3161a53a11894ab883acdf66487026cd |
| institution | DOAJ |
| issn | 2366-1070 2366-1089 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Adis, Springer Healthcare |
| record_format | Article |
| series | Oncology and Therapy |
| spelling | doaj-art-3161a53a11894ab883acdf66487026cd2025-08-20T03:10:27ZengAdis, Springer HealthcareOncology and Therapy2366-10702366-10892025-04-0113236337910.1007/s40487-025-00332-8Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational StudyStefania Morganti0Rabia A. Khan1Luis C. Berrocal-Almanza2Miguel Miranda3Linlin Luo4Xiaoqing Xu5Ann H. Partridge6Filipa Lynce7Dana-Farber Cancer Institute, Harvard Medical SchoolOncology Outcomes Research, AstraZenecaOncology Outcomes Research, AstraZenecaOncology Outcomes Research, AstraZenecaOncology Outcomes Research, AstraZenecaOncology Outcomes Research, AstraZenecaDana-Farber Cancer Institute, Harvard Medical SchoolDana-Farber Cancer Institute, Harvard Medical SchoolAbstract Introduction The 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. Methods Deidentified 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. Results Of 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. Conclusions Prevalence 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. Graphical Abstracthttps://doi.org/10.1007/s40487-025-00332-8BRCA1/BRCA2 geneBRCA testingEarly breast cancerGenetic testingGermline BRCA pathogenic variantsGermline BRCA variant HR-positive |
| spellingShingle | Stefania Morganti Rabia A. Khan Luis C. Berrocal-Almanza Miguel Miranda Linlin Luo Xiaoqing Xu Ann H. Partridge Filipa Lynce Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study Oncology and Therapy BRCA1/BRCA2 gene BRCA testing Early breast cancer Genetic testing Germline BRCA pathogenic variants Germline BRCA variant HR-positive |
| title | Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study |
| title_full | Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study |
| title_fullStr | Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study |
| title_full_unstemmed | Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study |
| title_short | Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study |
| title_sort | oncotype dx recurrence score and germline brca variants in patients with hr positive her2 negative early breast cancer a retrospective observational study |
| topic | BRCA1/BRCA2 gene BRCA testing Early breast cancer Genetic testing Germline BRCA pathogenic variants Germline BRCA variant HR-positive |
| url | https://doi.org/10.1007/s40487-025-00332-8 |
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