Centro de Oncología de Precisión (COP), Facultad de Medicina y Ciencias de la Salud, Universidad Mayor, Las Condes, Santiago 7560908, Chile.
Laboratorio de Transformación Celular, Programa de Biología Celular y Molecular, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Independencia, Santiago 783090, Chile.
Int J Mol Sci. 2023 Nov 8;24(22):16076. doi: 10.3390/ijms242216076.
Cancer is a genomic disease, with driver mutations contributing to tumorigenesis. These potentially heritable variants influence risk and underlie familial breast cancer (BC). This study evaluated associations between BC risk and 13 SNPs in driver genes , , , , , , , , and , in -negative Chilean families. SNPs were genotyped using TaqMan Assay in 492 cases and 1285 controls. There were no associations between rs75704921:C>T (); rs2229032:A>C (); rs3735156:C>G (); rs2276738:G>C, rs2293906:C>T, rs4075943T:>A, rs13091808:C>T (); rs178831:G>A (); or rs3759173:C>A () and risk. The rs832583 A allele (C/A+A/A) showed a protective effect in families with moderate BC history (OR = 0.7 [95% CI 0.5-0.9] = 0.01). rs16865677-T (G/T+T/T) increased risk in sporadic early-onset BC (OR = 1.4 [95% CI 1.0-2.0] = 0.01). rs3819122-C (A/C+C/C) increased risk in cases with moderate family history (OR = 2.0 [95% CI 1.3-2.9] ≤ 0.0001) and sporadic cases diagnosed ≤50 years (OR = 1.6 [95% CI 1.1-2.2] = 0.006). rs12456284:A>G increased BC risk in G-allele carriers (A/G + G/G) in cases with ≥2 BC/OC cases and early-onset cases (OR = 1.2 [95% CI 1.0-1.6] = 0.04 and OR = 1.4 [95% CI 1.0-1.9] = 0.03, respectively). Our study suggests that specific germline variants in driver genes , , and contribute to BC risk in Chilean population.
癌症是一种基因组疾病，驱动突变导致肿瘤发生。这些潜在的可遗传变异影响风险，并构成家族性乳腺癌（BC）的基础。本研究评估了 13 个驱动基因中的 SNPs 与 BC 风险之间的关联，这些基因包括、、、、、、、和，在智利无家族史的阴性家族中。在 492 例病例和 1285 例对照中，使用 TaqMan 分析进行了 SNPs 基因分型。rs75704921：C>T（）；rs2229032：A>C（）；rs3735156：C>G（）；rs2276738：G>C，rs2293906：C>T，rs4075943：T：>A，rs13091808：C>T（）；rs178831：G>A（）；或 rs3759173：C>A（）与风险无关。rs832583 的 A 等位基因（C/A+A/A）在具有中度 BC 病史的家族中表现出保护作用（OR=0.7 [95%CI 0.5-0.9] = 0.01）。rs16865677-T（G/T+T/T）增加了散发性早发性 BC 的风险（OR=1.4 [95%CI 1.0-2.0] = 0.01）。rs3819122-C（A/C+C/C）增加了中度家族史病例的风险（OR=2.0 [95%CI 1.3-2.9] ≤ 0.0001）和散发性病例诊断≤50 岁（OR=1.6 [95%CI 1.1-2.2] = 0.006）。rs12456284：A>G 增加了携带 G 等位基因的病例（A/G+G/G）的 BC 风险，这些病例具有≥2 例 BC/OC 病例和早发性病例（OR=1.2 [95%CI 1.0-1.6] = 0.04 和 OR=1.4 [95%CI 1.0-1.9] = 0.03）。本研究表明，智利人群中特定的驱动基因中的种系变体、和有助于 BC 风险。
