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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Wild type patients | Patients with no mutations or VUS in Breast Cancer-related genes candidated to surgery as primary treatment and eligible for Oncotype DX assay. |
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| VUS patients | Patients with VUS in Breast Cancer-related genes candidated to surgery as primary treatment and eligible for Oncotype DX assay. |
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| Mutated patients | Patients with mutation in Breast Cancer-related genes candidated to surgery as primary treatment and eligible for Oncotype DX assay. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Oncotype DX assay | Genetic | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Oncotype DX assay and RS® in participants. | 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. | 30 days after surgery. |
| Measure | Description | Time Frame |
|---|---|---|
| Oncotype DX assay and RS® in participants by menopausal or nodal status. | To evaluate Oncotype DX RS® distribution stratifying patients by menopausal or nodal status. | 30 days after surgery |
| Distant or local recurrence. |
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Inclusion Criteria:
Exclusion Criteria:
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Breast cancer patients who underwent surgery as primary treatment and eligible for Oncotype DX assay.
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| Name | Affiliation | Role |
|---|---|---|
| Oreste Davide Gentilini | Università Vita-Salute San Raffaele | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Ospedale San Raffaele | Milan | MI | 20132 | Italy |
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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|
Evaluation of distant or local recurrence from follow-up data
| Up to 10 years after surgery |
| D017437 |
| Skin and Connective Tissue Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |