Prognostic and Predictive Role of Intrinsic Molecular Subtypes in BRCA-associated Breast Cancer

Angela Toss100 enrolled

Overview

This study is an observational study being carried out in several hospitals. No extra tests or procedures are required beyond those already part of normal medical care. The study is sponsored by the University of Modena and Reggio Emilia and aims to include about 100 patients. The main goal of the study is to better understand the different biological types of breast cancer in patients who have hormone receptor-positive (HR-positive), HER2-negative breast cancer related to BRCA gene mutations. In particular, the study will explore whether these cancers tend to belong to molecular types that may respond less to endocrine or CDK4/6 inhibitor therapy. The study also compares cancers linked to BRCA1 and BRCA2 mutations and investigates whether the different biological types are associated with differences in disease outcomes and response to treatment.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Breast Cancer

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Age 18 years or older * Patients carrying a pathogenic or likely pathogenic germline variant in BRCA1 or BRCA2 with a histologically confirmed diagnosis of HR+/HER2-negative breast cancer * Patients with available hospital and/or outpatient medical records for clinical data collection * Presence of available formally fixed paraffin-embedded (FFPE) breast tumor tissue (primary or metastatic site) Exclusion Criteria: * None

Locations (6)

Ospedale San Martino di Genova

Genova, Italy

RECRUITING

Fondazione IRCCS Istituto Nazionale dei Tumori Milano

Milan, Italy

RECRUITING

Istituto Oncologico Europeo di Milano

Milan, Italy

RECRUITING

Azienda Ospedaliero-Universitaria Policlinico di Modena

Modena, Italy

RECRUITING

Istituto Oncologico Veneto IRCCS Padova

Padova, Italy

RECRUITING

Fondazione Policlinico Universitario Agostino Gemelli di Roma

Roma, Italy

RECRUITING

Outcomes

Primary Outcomes

Distribution of intrinsic subtypes in BRCA1 and BRCA2-associated HR+/HER2-negative tumors

To evaluate the differences in intrinsic subtype distribution between BRCA1 and BRCA2-associated HR+/HER2-negative tumors.

Time frame: through study completion

Overall survival depending on intrinsic subtype

To explore the prognostic role of different intrinsic subtypes in terms of overall survival (OS) in HR+/HER2-negative BRCA-associated breast cancer

Time frame: through study completion

Secondary Outcomes

Benefit from CDK4/6 inhibitors depending on molecular subtype

Evaluating sensitivity to CDK4/6 inhibitors and PARP inhibitors by molecular subtype in HR+/HER2-negative BRCA-related tumors.

Time frame: through study completion

Molecular features of BRCA1-related and BRCA2-related breast cancers

To evaluate, through a multigene panel, the different molecular expression of HR+/HER2-negative BRCA1-related and BRCA2-related breast cancers.

Time frame: through study completion