Yang Xiaohong R, Sherman Mark E, Rimm David L, Lissowska Jolanta, Brinton Louise A, Peplonska Beata, Hewitt Stephen M, Anderson William F, Szeszenia-Dabrowska Neonila, Bardin-Mikolajczak Alicja, Zatonski Witold, Cartun Richard, Mandich Daniza, Rymkiewicz Grzegorz, Ligaj Marcin, Lukaszek Stanislaw, Kordek Radzisaw, García-Closas Montserrat
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Room 7014, 6120 Executive Boulevard, Bethesda, MD 20892-7236, USA.
Cancer Epidemiol Biomarkers Prev. 2007 Mar;16(3):439-43. doi: 10.1158/1055-9965.EPI-06-0806.
Analysis of gene expression data suggests that breast cancers are divisible into molecular subtypes which have distinct clinical features. This study evaluates whether pathologic features and etiologic associations differ among molecular subtypes. We evaluated 804 women with invasive breast cancers and 2,502 controls participating in a Polish Breast Cancer Study. Immunohistochemical stains for estrogen receptor alpha, progesterone receptor, human epidermal growth factor receptors (HER2 and HER1), and cytokeratin 5 were used to classify cases into five molecular subtypes: luminal A, luminal B, HER2-expresing, basal-like, and unclassified. Relative risks were estimated using adjusted odds ratios and 95% confidence intervals. We observed that compared with the predominant luminal A tumors (69%), other subtypes were associated with unfavorable clinical features at diagnosis, especially HER2-expressing (8%) and basal-like (12%) tumors. Increasing body mass index significantly reduced the risk of luminal A tumors among premenopausal women (odds ratios, 0.71; 95% confidence intervals, 0.57-0.88 per five-unit increase), whereas it did not reduce risk for basal-like tumors (1.18; 0.86-1.64; P(heterogeneity) = 0.003). On the other hand, reduced risk associated with increasing age at menarche was stronger for basal-like (0.78; 0.68-0.89 per 2-year increase) than luminal A tumors (0.90; 0.95-1.08; P(heterogeneity) = 0.0009). Although family history increased risk for all subtypes (except for unclassified tumors), the magnitude of the relative risk was highest for basal-like tumors. Results from this study have shown that breast cancer risk factors may vary by molecular subtypes identified in expression studies, suggesting etiologic, in addition to clinical, heterogeneity of breast cancer.
基因表达数据分析表明,乳腺癌可分为具有不同临床特征的分子亚型。本研究评估了分子亚型之间的病理特征和病因关联是否存在差异。我们评估了参与波兰乳腺癌研究的804例浸润性乳腺癌女性患者和2502例对照。使用雌激素受体α、孕激素受体、人表皮生长因子受体(HER2和HER1)以及细胞角蛋白5的免疫组织化学染色将病例分为五种分子亚型:腔面A型、腔面B型、HER2过表达型、基底样型和未分类型。使用调整后的比值比和95%置信区间估计相对风险。我们观察到,与占主导的腔面A型肿瘤(69%)相比,其他亚型在诊断时与不良临床特征相关,尤其是HER2过表达型(8%)和基底样型(12%)肿瘤。体重指数增加显著降低了绝经前女性患腔面A型肿瘤的风险(比值比为0.71;每增加五个单位,95%置信区间为0.57 - 0.88),而对于基底样型肿瘤风险并未降低(1.18;0.86 - 1.64;P(异质性)= 0.003)。另一方面,初潮年龄增加相关的风险降低在基底样型肿瘤中比腔面A型肿瘤更强(每增加2岁,0.78;0.68 - 0.89)(腔面A型肿瘤为0.90;0.95 - 1.08;P(异质性)= 0.0009)。虽然家族史增加了所有亚型(未分类肿瘤除外)的风险,但基底样型肿瘤的相对风险增幅最高。本研究结果表明,乳腺癌风险因素可能因表达研究中确定的分子亚型而异,这表明乳腺癌除了临床异质性外还存在病因异质性。