Publications by authors named "J E Ales-Martinez"

Purpose: To evaluate the efficacy and safety of the combination of olaparib plus trastuzumab in patients with HER2-positive advanced breast cancer (ABC) and germinal BRCA mutations (gBRCAm).

Methods: OPHELIA (NCT03931551) was a single-arm, open-label, phase 2 clinical trial. Patients aged ≥18 years diagnosed with HER2-positive ABC with germinal deleterious mutations in BRCA1 or BRCA2 who had received at least one prior systemic regimen for advanced disease were enrolled.

View Article and Find Full Text PDF

Introduction: Trastuzumab emtansine (T-DM1) significantly improves invasive disease-free survival and reduces the risk of recurrence in patients with HER2-positive early breast cancer (EBC) with residual disease (RD). The KARMA study aimed to describe the characteristics and management of these patients in clinical practice in Spain.

Material And Methods: We conducted a multicentre retrospective study in patients with HER2-positive EBC with RD following neoadjuvant treatment (NeoT) and who had received ≥1 dose of T-DM1 as adjuvant treatment.

View Article and Find Full Text PDF
Article Synopsis
  • BRCA1 and BRCA2 gene mutations play a significant role in hereditary breast cancer and are increasingly important for determining eligibility for PARP inhibitor therapies.
  • Updated guidelines for BRCA testing are necessary due to the overlap of genetic testing with both preventive measures and treatment strategies for breast cancer patients.
  • An expert international group, including various healthcare professionals, developed recommendations to improve genetic counseling, update testing indications for therapy, and streamline the testing process for managing breast cancer effectively.
View Article and Find Full Text PDF

Background: This study evaluated efficacy and safety of palbociclib, a CDK4/6 inhibitor, in heavily-pretreated hormone receptor-positive and human epidermal growth factor receptor 2-negative (HR/HER2) metastatic breast cancer (mBC) patients during the compassionate use program in Spain from February 2015 to November 2017.

Patients And Methods: Patient data were collected retrospectively from 35 hospitals in Spain. Patients with HR/HER2 mBC who had progressed on ≥4 treatments for advanced disease were eligible.

View Article and Find Full Text PDF

Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. Multigene cancer panels provide new challenges related to increased frequency of variants of uncertain significance, new gene-specific cancer risk assessments, and clinical recommendations for carriers of mutations of new genes. Although clinical criteria for genetic testing continue to be largely based on personal and family history with around a 10% detection rate, broader criteria are being applied with a lower threshold for detecting mutations when there are therapeutic implications for patients with breast or ovarian cancer.

View Article and Find Full Text PDF