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- Title
Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia.
- 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
- Abstract
Simple Summary: Hereditary breast cancer represents a significant proportion of breast cancer cases worldwide, and BRCA1 and BRCA2 explain the majority of these. Less frequent genes with variable penetrance remain less characterized in Colombia. This study explores the characteristics and outcomes of 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Instituto Nacional de Cancerología, Colombia (INC-C) from 2018 to 2021 as part of an Institutional Hereditary Cancer Program implementation. We described the distribution of germline PVs among the different breast cancer molecular subtypes in this cohort of carriers. We observed that most PVs were in known breast cancer susceptibility genes, and PVs in BRCA2 were the most frequent. Notably, we observed that patients with disease progression were predominantly carriers of PVs in the BRCA2 gene. 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): BRCA2 (30), BRCA1 (14), BARD1 (4), RAD51D (3), TP53 (2), PALB2 (2), ATM (2), CHEK2 (1), RAD51C (1), NF1 (1), and PTEN (1). BRCA1-2 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 BRCA2 gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in BRCA2 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.
- Subjects
BREAST cancer prognosis; BREAST tumor treatment; BRCA genes; CANCER relapse; RESEARCH funding; BREAST tumors; CANCER patients; TREATMENT effectiveness; DESCRIPTIVE statistics; FAMILY history (Medicine); ADJUVANT chemotherapy; KAPLAN-Meier estimator; GENETIC disorders; DNA damage; DNA repair; PROGRESSION-free survival; MASTECTOMY; CONFIDENCE intervals; DATA analysis software; HEREDITARY cancer syndromes; OVERALL survival
- Publication
Cancers, 2024, Vol 16, Issue 11, p2020
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16112020