Department of Medical Genetics, Faculty Hospital of Ostrava, Ostrava, Czech Republic. pavlina.plevova@volny
Neoplasma. 2010;57(4):325-32. doi: 10.4149/neo_2010_04_325.
Breast cancer associated with BRCA1 and BRCA2 gene mutations differs from non-BRCA tumors in several respects. We determined whether there was any difference in CCND1 (11q13) and ZNF217 (20q13) gene amplification with respect to BRCA status. Of 40 breast cancer samples examined, 15 and 9 were from BRCA1 and BRCA2 mutation carriers, respectively, and 16 from patients without mutation. Fluorescence in situ hybridization showed that eight tumors exhibited CCND1 amplification (20%; 3 BRCA1, 3 BRCA2, 2 non-BRCA). ZNF217 amplification was observed in three of 38 cases (8%; 2 BRCA1, 1 non-BRCA). There was no significant difference in CCND1 and ZNF217 amplification between BRCA1, BRCA2 and non-BRCA tumors. CCND1 amplification was associated with decreased disease-free (P = 0.045) and overall survival (P = 0.015). BRCA1 tumors with CCND1 amplification were estrogen receptor negative, in contrast to CCND1 amplified BRCA2 and non-BRCA tumors, suggesting that concurrent CCND1 amplification and estrogen and progesterone receptor negativity may predict germline BRCA1 gene mutation. All ZNF217 amplified tumors were of the medullary histological type (P = 0.002). There was no statistical correlation between CCND1 and ZNF217 amplification and estrogen receptor, progesterone receptor, and ERBB2 expression and TNM classification. CCND1 amplification did not correlate with EGFR expression.
乳腺癌与 BRCA1 和 BRCA2 基因突变相关，在几个方面与非 BRCA 肿瘤不同。我们确定 CCND1（11q13）和 ZNF217（20q13）基因扩增是否与 BRCA 状态有关。在检查的 40 个乳腺癌样本中，15 个和 9 个分别来自 BRCA1 和 BRCA2 突变携带者，16 个来自无突变患者。荧光原位杂交显示，8 个肿瘤显示 CCND1 扩增（20%；3 个 BRCA1，3 个 BRCA2，2 个非 BRCA）。在 38 例中观察到 ZNF217 扩增 3 例（8%；2 个 BRCA1，1 个非 BRCA）。BRCA1、BRCA2 和非 BRCA 肿瘤之间 CCND1 和 ZNF217 扩增无显著差异。CCND1 扩增与无病生存（P = 0.045）和总生存（P = 0.015）降低相关。与 CCND1 扩增的 BRCA2 和非 BRCA 肿瘤相反，BRCA1 肿瘤的雌激素受体阴性，提示同时存在 CCND1 扩增和雌激素和孕激素受体阴性可能预测种系 BRCA1 基因突变。所有 ZNF217 扩增的肿瘤均为髓样组织学类型（P = 0.002）。CCND1 和 ZNF217 扩增与雌激素受体、孕激素受体和 ERBB2 表达以及 TNM 分类之间无统计学相关性。CCND1 扩增与 EGFR 表达无关。
