Facultad de Nutrición, Universidad Autónoma del Estado de Morelos, Río Iztacihuatl S/N. Col. Vista Hermosa,, C.P. 62350, Ciudad de México, Mexico.
Departamento de Medicina Genómica Y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Apartado, Postal 70228, C.P. 04510, Ciudad de México, Mexico.
Cancer Causes Control. 2021 Apr;32(4):369-378. doi: 10.1007/s10552-021-01393-6. Epub 2021 Jan 30.
Prolonged exposure to estrogens is the main factor associated with the risk and prognosis of breast cancer (BC). The genes involved in the biotransformation of estrogens and xenobiotics have allelic variants with modified enzymatic activities. We investigated the association of nine polymorphisms of some genes from the classical estrogen pathway with the risk of breast cancer and their role in the clinicopathological characteristics of poor clinical prognosis in a sample of Mexican women with BC.
We included 150 controls and 150 cases matched by age. To analyze the selected polymorphisms, TaqMan assays and high-resolution melting (HRM) analysis were used.
The polymorphisms of the genes ERα, CYP1A1, CYP1B1, COMT, MGMT, and XRCC1 were positively associated with the BC risk. We found negative associations between CYP1B1 genotype and tumor size, and status of lymph node, estrogen receptor, triple negative, and survival.
The polymorphisms included in this study are associated not only with the risk of BC, but also with some clinicopathological characteristics for poor prognosis of patients with breast cancer, highlighting the important role of CYP1B1 Leu432Val polymorphism.
雌激素的长期暴露是与乳腺癌(BC)风险和预后相关的主要因素。参与雌激素和外源性化学物质生物转化的基因具有改变酶活性的等位基因变异体。我们研究了经典雌激素途径中一些基因的 9 种多态性与乳腺癌风险的关系,以及它们在墨西哥 BC 女性样本中不良临床预后的临床病理特征中的作用。
我们纳入了 150 名对照和 150 名年龄匹配的病例。为了分析所选的多态性,使用了 TaqMan 测定法和高分辨率熔解(HRM)分析。
基因 ERα、CYP1A1、CYP1B1、COMT、MGMT 和 XRCC1 的多态性与 BC 风险呈正相关。我们发现 CYP1B1 基因型与肿瘤大小、淋巴结状态、雌激素受体、三阴性和生存呈负相关。
本研究中包含的多态性不仅与乳腺癌的风险相关,而且与乳腺癌患者不良预后的某些临床病理特征相关,突出了 CYP1B1 Leu432Val 多态性的重要作用。