Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia

• Published in: Cancers Vol. 16; no. 11; p. 2020
• Main Authors: Sanabria-Salas, María Carolina, Pedroza-Duran, Ana, Díaz-Casas, Sandra E, Nuñez Lemus, Marcela, Grillo-Ardila, Carlos F, Briceño-Morales, Ximena, García-Mora, Mauricio, Ángel-Aristizábal, Javier, Mariño Lozano, Iván Fernando, Suarez Rodríguez, Raúl Alexis, Guzmán Abisaab, Luis Hernán
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 26.05.2024; MDPI
• Subjects: BRCA1 protein; BRCA2 protein; Breast cancer; Care and treatment; DNA damage; DNA repair; Family medical history; Genetic aspects; Homologous recombination; Mortality; Ovarian cancer; p53 Protein; Patient outcomes; PTEN protein; Survival; Colombia; hereditary breast and ovarian cancer syndrome; bilateral risk-reducing mastectomy; genetic predisposition to disease; breast neoplasms; prevention; survival
• ISSN: 2072-6694; 2072-6694
• DOI: 10.3390/cancers16112020

This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis was 46 years, with 62.2% presenting locally advanced tumors, 47.6% histological grade 3, and 35.4% with triple-negative breast cancer (TNBC) subtype. Most carriers, 74.4% (61/82), had PVs in known breast cancer susceptibility genes (i.e., "associated gene carriers" group, considered inherited breast cancer cases): (30), (14), (4), (3), (2), (2), (2), (1), (1), (1), and (1). represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs.