Transforming growth factor beta 1 (TGFβ1) is a pleiotropic cytokine that acts in a context-dependent manner. In breast cancer (BC) this cytokine exerts subtype- and stage-specific roles, inhibiting poorly aggressive tumors while enhances the invasive potential of highly aggressive cancers. Single-nucleotide polymorphisms (SNPs) affecting TGFβ1 production largely reflect this pattern of association, but studies investigating systemic TGFβ1 levels in BC patients and their association with clinical features or SNPs produced conflicting conclusions. Therefore, the present work investigated plasmatic TGFβ1 levels through enzyme linked immunosorbent assay (ELISA) in 341 individuals previously genotyped for four TGFB1 SNPs [G-800A (rs1800468), C-509T (rs1800469), T29C (rs1800470) and G74C (rs1800471)], encompassing 184 neoplasia-free women with clinical information regarding health status, 113 treatment-free pre-surgery BC patients and 44 treated BC patients. Results have shown that TGFβ1 levels varied greatly in function of health status in neoplasia-free women, and disease-free individuals had higher TGFβ1 levels than both treatment-free or treated BC patients. There was no correlation between TGFβ1 with clinicopathological features in treatment-free BC general group, but it was negatively correlated with tumor size in luminal-B-HER2+ patients and with histopathological grade in triple-negative group. Also, TGFB1 ACTG haplotype (from G-800A to G74C) was associated with decreased TGFβ1 levels compared to the reference GCTG haplotype, and regression analyses showed that this association was independent of age, health status or BC diagnosis. In conclusion, several factors may influence TGFβ1 levels, and ACTG haplotype seems to be an important factor regulating TGFβ1 production.

中文翻译：

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乳腺癌和无瘤女性的转化生长因子 β1 (TGFβ1) 血浆水平：与患者特征和 TGFB1 单倍型的关联

转化生长因子 β 1 (TGFβ1) 是一种多效性细胞因子，其作用与背景有关。在乳腺癌 (BC) 中，这种细胞因子发挥亚型和阶段特异性作用，抑制侵袭性较差的肿瘤，同时增强高度侵袭性癌症的侵袭潜力。影响 TGFβ1 产生的单核苷酸多态性 (SNP) 在很大程度上反映了这种关联模式，但调查 BC 患者全身性 TGFβ1 水平及其与临床特征或 SNP 的关联的研究得出了相互矛盾的结论。因此，目前的工作通过酶联免疫吸附试验 (ELISA) 研究了 341 名先前对四种 TGFB1 SNP [G-800A (rs1800468)、C-509T (rs1800469)、T29C (rs1800470) 和 G717C 进行基因分型的个体的血浆 TGFβ1 水平], 包括 184 名具有健康状况临床信息的无瘤形成女性、113 名未接受治疗的术前 BC 患者和 44 名接受过治疗的 BC 患者。结果表明，TGFβ1 水平在无瘤女性的健康状况功能方面变化很大，无病个体的 TGFβ1 水平高于未治疗或治疗的 BC 患者。TGFβ1与未治疗BC普通组的临床病理特征无相关性，但与luminal-B-HER2+患者的肿瘤大小和三阴性组的组织病理学分级呈负相关。此外，与参考 GCTG 单倍型相比，TGFB1 ACTG 单倍型（从 G-800A 到 G74C）与 TGFβ1 水平降低相关，回归分析表明这种关联与年龄、健康状况或 BC 诊断无关。