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
Instituto Nacional de Cancerología, Calle 1 N. 9-85, Bogotá 111511, Colombia.
Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, 610 University Avenue, Toronto, ON M5G 2C1, Canada.
Cancers (Basel). 2024 May 26;16(11):2020. 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.
本研究旨在调查2018年至2021年间在哥伦比亚国家癌症研究所乳腺科（INC-C）接受治疗和随访的82例携带生殖系致病/可能致病变异（PVs）的乳腺癌患者的预后和生存差异。诊断时的中位年龄为46岁，62.2%为局部晚期肿瘤，47.6%为组织学3级，35.4%为三阴性乳腺癌（TNBC）亚型。大多数携带者，即74.4%（61/82），在已知的乳腺癌易感基因中存在PVs（即“相关基因携带者”组，被视为遗传性乳腺癌病例）：（30）、（14）、（4）、（3）、（2）、（2）、（2）、（1）、（1）、（1）和（1）。占53.7%，与乳腺癌风险相关的同源重组DNA损伤修复（HR-DDR）基因占15.9%。非乳腺癌风险基因中存在PVs的患者归为另一类（21/82；25.6%）（即“非相关基因携带者”组，被视为其他乳腺癌病例）。中位随访时间为38.1个月，24%的患者出现复发，其中90%为远处复发。遗传性乳腺癌病例的5年无病生存率（DFS）为66.5%，其他乳腺癌病例为88.2%。特别是，对于基因中存在PVs的携带者，为37.6%。5年总生存率（OS）从基因中存在PVs的患者的68.8%到其他HR-DDR基因中存在PVs的患者中的100%不等。进一步的研究对于了解哥伦比亚携带生殖系PVs的乳腺癌患者的肿瘤行为和治疗反应差异至关重要。
