Clinical trial NCT06484725: Oncotype DX in BRCA-mutated Breast Cancer Patients: Our Experience. A Retrospective Observational Monocentric Study
Official title: Oncotype DX in BRCA-mutated Breast Cancer Patients: Our Experience. A Retrospective Observational Monocentric Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Cancer
Genetic Predisposition
Keywords: BRCA1
BRCA2
Genomic test
Lead sponsor: IRCCS San Raffaele
Sponsor class: OTHER
First posted: 2024-07-03
Enrollment: 250
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Breast cancer patients who underwent surgery as primary treatment and eligible for Oncotype DX assay.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Oncotype DX assay and RS® in participants.
timeFrame: 30 days after surgery.
Secondary outcomes:
measure: Oncotype DX assay and RS® in participants by menopausal or nodal status.
timeFrame: 30 days after surgery
measure: Distant or local recurrence.
timeFrame: Up to 10 years after surgery
Other outcomes:
Locations:
city: Milan
country: Italy
facility: IRCCS Ospedale San Raffaele
state: MI
Study officials:
affiliation: Vita-Salute San Raffaele University
name: Oreste Davide Gentilini
role: STUDY_DIRECTOR
References: