Clinical outcomes and Oncotype DX Breast Recurrence Score® in early‐stage<scp>BRCA</scp>‐associated hormone receptor‐positive breast cancer

Layman, Rachel M.; Lin, Heather; Barrera, Angelica M. Gutierrez; Karuturi, Meghan Sri; Yam, Clinton; Arun, Banu K.

doi:10.1002/cam4.4566

Cited by 7 publications

(2 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, multivariate analysis of recurrence-free survival (RFS) was not significant, hazard ratio (HR) 1.519 [95% confidence interval (CI), 0.64-3.58; P=0.3401]. 15 prospective study from the UK followed 2733 patient with breast cancer diagnosis at age 40 or younger, and pathogenic BRCA1/2 mutations were detected in 338 (12%) women. At a median follow-up of 8.2 years, no significant OS difference was detected between BRCA-mutated and WT young patients.…”

Section: Pathological Features Of Brca-associated Breast Cancermentioning

confidence: 99%

See 1 more Smart Citation

Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants

Edaily¹,

Abdel‐Razeq²

2022

OTT

View full text Add to dashboard Cite

Most of breast cancer cases are sporadic; however, 15-20% are associated with family history, and some are inherited. Among those, deleterious mutations in BRCA1 and BRCA2 tumor suppressor genes are the most commonly encountered pathogenic germline variants (PGVs). Given the availability and affordability of multi-gene panel sequencing technologies, testing for PGVs is commonly practiced. With our enhanced understanding of cancer genetics and specific molecular alterations, the better acceptance of risk-directed screening and prevention, and the recent introduction of novel targeted therapies, management of BRCA-positive breast cancers is taking a new direction, focusing more on risk-reducing interventions, including mastectomy and salpingo-oophorectomy, and incorporating special treatment regimens, including platinum-based chemotherapy, and the recently-introduced PARP (poly (ADP)-ribose polymerase) inhibitors. Given the recent advances in reproductive technology and molecular medicine, younger women with PGVs may have the option of embryo selection through preimplantation genetic testing and diagnosis, thus preventing the potential transmission of the implicated genes to the next generations. In this review, we cover the clinical implications of identifying a pathogenic germline mutation in BRCA1 and BRCA2 genes in breast cancer patients, and their relatives, across the continuum of care -from cancer prevention and early detection, through active treatment and up to survivorship issues.

show abstract

Section: Pathological Features Of Brca-associated Breast Cancermentioning

confidence: 99%

“…However, multivariate analysis of recurrence-free survival (RFS) was not significant, hazard ratio (HR) 1.519 [95% confidence interval (CI), 0.64–3.58; P =0.3401]. 15 …”

Section: Pathological Features Of Brca -Associated...mentioning

confidence: 99%

Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants

Edaily¹,

Abdel‐Razeq²

2022

OTT

View full text Add to dashboard Cite

show abstract

Clinical outcomes and Oncotype DX Breast Recurrence Score® in early‐stageBRCA‐associated hormone receptor‐positive breast cancer

et al. 2022

Self Cite

View full text Add to dashboard Cite

Background: BRCA-associated breast cancers tend to have distinctive features compared to sporadic breast cancers; further characterization can aid in optimizing treatment. Methods:The study evaluated a patient cohort with early-stage estrogen receptor positive, HER2 negative invasive breast cancer who had Oncotype DX Breast Recurrence Score® analysis and genetic testing for hereditary breast and ovarian cancer syndrome. Data on patients and their breast cancers with outcomes were collected and analyzed.Results: 745 patients were included, of whom 33 had pathogenic BRCA mutations (8 BRCA1, 25 BRCA2). Patients with BRCA mutations were younger and received more adjuvant chemotherapy, but less endocrine therapy and radiation therapy. BRCA-associated breast cancers had less progesterone receptor expression, higher nuclear grade, and higher Oncotype DX Breast Recurrence Scores® with median Recurrence Score® 29, compared to 16 in cancers without mutations (p < 0.0001). Breast cancer recurrence developed in 18% of patients with BRCA mutations and 9% of patient without mutations, although multivariate analysis of relapse-free survival was not significant, HR 1.519 (95% confidence interval [CI] 0.64-3.58; p = 0.3401). After adjusting for Recurrence Score®, overall survival by BRCA status was improved HR 0.448 (95% CI 0.06-3.34; p = 0.4333).Conclusions: BRCA-associated early-stage hormone receptor-positive breast cancers have higher Oncotype DX Breast Recurrence Score® compared to those without mutations. BRCA status did not significantly impact relapse-free survival and overall survival. Larger clinical trials are needed to further assess the findings, and if confirmed, could impact clinical management of BRCA-associated breast cancers.

show abstract

BRCA1/2 mutation carriers vs the general breast cancer population (N = 799,986): 21-gene assay-based molecular characterization

Yerushalmi,

Pomerantz,

Lewin

et al. 2024

Breast Cancer Res Treat

View full text Add to dashboard Cite

Purpose We compared 21-gene recurrence score (RS) distribution and expression of the single-gene/gene groups within this assay between BC patients with pathogenic variants (PV) in BRCA1/2 vs the general 21-gene-tested BC population. Methods This retrospective study included consecutive 21-gene-tested female ER + HER2-negative BC patients with germline PVs in BRCA1/2. RS/gene expression data were compared to a previously described commercial use database (CDB, N = 799,986). Chi-square and 1-sample t test were used to compare RS distribution and single-gene/gene group scores between the study group and the CDB. Results Study group patients (N = 81) were younger and their RS results were higher compared to the CDB (age: median [IQR], 56 [47–61.5] vs 60 [51–67] years; p < 0.001; proportion of patients with RS ≥ 26: 49.4% vs 16.4%, p < 0.001). Expression of 12/16 cancer genes in the assay and the ER, proliferation, and invasion gene group scores differed significantly between the study group and the CDB, all in a direction contributing to higher RS. The differences between the study group and the CDB were mostly retained, upon stratifying the patients by menopausal status. Conclusion BC patients with PVs in BRCA1/2 have higher RS results that stem from distinct gene expression profiles in the majority of genes in the 21-gene assay.

show abstract

Clinical outcomes and Oncotype DX Breast Recurrence Score® in early‐stageBRCA‐associated hormone receptor‐positive breast cancer

Cited by 7 publications

References 23 publications

Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants

Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants

Clinical outcomes and Oncotype DX Breast Recurrence Score® in early‐stageBRCA‐associated hormone receptor‐positive breast cancer

BRCA1/2 mutation carriers vs the general breast cancer population (N = 799,986): 21-gene assay-based molecular characterization

Contact Info

Product

Resources

About