文章：

哥伦比亚临床样本中遗传性癌症综合征女性乳腺癌的管理与临床结局

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

原文发布日期：26 May 2024

DOI: 10.3390/cancers16112020

类型: Article

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英文摘要：

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), andPTEN(1).BRCA1-2represented 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 theBRCA2gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs inBRCA2to 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.

摘要翻译： 

本研究旨在探讨2018年至2021年间在哥伦比亚国家癌症研究所（INC-C）乳腺科接受治疗和随访的82例携带胚系致病性/可能致病性变异（PVs）的乳腺癌患者的预后及生存差异。诊断中位年龄为46岁，其中62.2%为局部晚期肿瘤，47.6%为组织学3级，35.4%为三阴性乳腺癌亚型。74.4%（61/82）的携带者存在已知乳腺癌易感基因PVs（即“相关基因携带者”组，视为遗传性乳腺癌病例）：包括BRCA2（30例）、BRCA1（14例）、BARD1（4例）、RAD51D（3例）、TP53（2例）、PALB2（2例）、ATM（2例）、CHEK2（1例）、RAD51C（1例）、NF1（1例）和PTEN（1例）。其中BRCA1-2占比53.7%，与乳腺癌风险相关的同源重组DNA损伤修复（HR-DDR）基因占比15.9%。携带非乳腺癌风险基因PVs的患者被归为另一类别（21/82；25.6%）（即“非相关基因携带者”组，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%为远处转移。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%。特别值得注意的是，BRCA2基因PVs携带者的5年DFS仅为37.6%。5年总生存率（OS）从BRCA2基因PVs携带者的68.8%到其他HR-DDR基因PVs携带者的100%不等。进一步研究对于理解哥伦比亚携带胚系PVs的乳腺癌患者的肿瘤行为及治疗反应差异至关重要。

原文链接：

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