Breast Cancer, Genetic Predisposition
Conditions
Keywords
BRCA1, BRCA2, Genomic test
Brief summary
The study aims to evaluate the distribution of the Oncotype DX RS® genomic test in patients with ER-positive and HER2-negative breast cancer treated from January 2012 to December 2021, focusing on patients presenting germline mutations.
Detailed description
In the past decades, genetic testing for cancer susceptibility has become essential in breast cancer (BC) management. Up to 10% of BC cases are associated with an inherited mutation in various genes, especially BRCA 1 and BRCA 2. Estrogen receptor (ER) positivity is observed in 22% on BRCA 1 and 77% of BRCA 2 mutation carrier; moreover, other genes are strongly related to ER-positive cancer. Oncotype DX assay (Genomic Health, Inc, Redwood City, Calif) is a 21 gene panel developed to predict the risk of tumor recurrence in patients with ER-positive and human epidermal growth factor 2 (HER2)- negative BC; nowadays, this test represents a standard of care to guide adjuvant chemotherapy decision recommended in several guidelines. According to Oncotype DX Recurrent Score (RS)® a high RS shows a worse prognosis and predicts chemotherapy benefit in patients with ER-positive HER2-negative BC. Combining Oncotype DX RS® with other risk factor elements, in particular germline mutations, could help to select patients who would benefit from an appropriate adjuvant therapy. This retrospective observational study aims to evaluate Oncotype DX RS® distribution in ER-positive HER2-negative BC patients treated from January 2012 to December 2021, focusing on patients harboring mutation in BC-associated genes compared to the general population.
Interventions
GENETICOncotype DX assay
Oncotype DX assay (Genomic Health, Inc, Redwood City, Calif) is a 21 gene panel developed to predict the risk of tumor recurrence in patients with ER-positive and human epidermal growth factor 2 (HER2)- negative breast cancer (BC); nowadays, this test represents a standard of care to guide adjuvant chemotherapy decision recommended in several guidelines. According to Oncotype DX Recurrent Score (RS)® a high RS shows a worse prognosis and predicts chemotherapy benefit in patients with ER-positive HER2-negative BC.
Sponsors
IRCCS San Raffaele
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age at diagnosis at least 18 years * Women who underwent breast surgery in OSR * Patients with ER-positive, HER2-unamplified early-stage BC who underwent the Oncotype DX assay, according to the standard of care.
Exclusion criteria
* Male * ER negative or HER2 amplified disease * Patient s who did not undergo breast surgery in OSR * Patient s who did not undergo the Oncotype Dx assay
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Oncotype DX assay and RS® in participants. | 30 days after surgery. | To evaluate the Oncotype DX RS® distribution in ER-positive early BC patients comparing patients with a deleterious germline mutation, patients with a VUS in BC-related genes and patients with no mutation. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Oncotype DX assay and RS® in participants by menopausal or nodal status. | 30 days after surgery | To evaluate Oncotype DX RS® distribution stratifying patients by menopausal or nodal status. |
| Distant or local recurrence. | Up to 10 years after surgery | Evaluation of distant or local recurrence from follow-up data |
Countries
Italy
Outcome results
None listed