Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients.
Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients.
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DOI：
10.4048/jbc.2014.17.1.1
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发表时间：
2014-03
影响因子：
2.4
通讯作者：
Jeong J
中科院分区：
文献类型：
--
作者：
Kim HW;Lee HM;Hwang SH;Ahn SG;Lee KA;Jeong J
p53基因是乳腺癌中最常见的突变基因之一。我们研究了韩国乳腺癌患者p53基因突变的模式和生物学特征，并评估其临床意义。纳入接受p53基因测序的患者。采用聚合酶链反应-变性高效液相色谱法和直接测序法对p53基因外显子5至外显子9进行突变分析。共有497例患者符合本研究的条件，其中71例（14.3%）检测到p53基因突变。p53突变与组织学分级（p<0.001）、雌激素受体和孕激素受体状态（p<0.001）、HER 2状态（p<0.001）、Ki-67（p=0.028）和肿瘤大小（p=0.004）显著相关。p53基因突变位点以外显子7最多见，错义突变是最常见的突变类型。与无突变患者相比，p53基因突变和错义突变患者的无复发生存率差异有统计学意义（分别为p=0.020，p=0.006）。在多变量分析中，只有p53错义突变是无复发生存期的独立预后因素，校正后的风险比为2.29（95%置信区间，1.08-4.89，p=0.031）。p53基因突变与更具侵袭性的临床病理特征相关，p53错义突变是韩国乳腺癌患者独立的不良预后因素。
The p53 gene is one of the most frequently mutated genes in breast cancer. We investigated the patterns and biologic features of p53 gene mutation and evaluated their clinical significance in Korean breast cancer patients. Patients who underwent p53 gene sequencing were included. Mutational analysis of exon 5 to exon 9 of the p53 gene was carried out using polymerase chain reaction-denaturing high performance liquid chromatography and direct sequencing. A total of 497 patients were eligible for the present study and p53 gene mutations were detected in 71 cases (14.3%). Mutation of p53 was significantly associated with histologic grading (p<0.001), estrogen receptor and progesterone receptor status (p<0.001), HER2 status (p<0.001), Ki-67 (p=0.028), and tumor size (p=0.004). The most frequent location of p53 mutations was exon 7 and missense mutation was the most common type of mutation. Compared with patients without mutation, there was a statistically significant difference in relapse-free survival of patients with p53 gene mutation and missense mutation (p=0.020, p=0.006, respectively). Only p53 missense mutation was an independent prognostic factor for relapse-free survival in multivariate analysis, with an adjusted hazard ratio of 2.29 (95% confidence interval, 1.08-4.89, p=0.031). Mutation of the p53 gene was associated with more aggressive clinicopathologic characteristics and p53 missense mutation was an independent negative prognostic factor in Korean breast cancer patients.
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影响因子：
11.5
作者：
Olivier, M;Langerod, A;Borresen-Dale, AL
通讯作者：
Borresen-Dale, AL
影响因子：
5
作者：
Keller, G;Hartmann, A;Höfler, H
通讯作者：
Höfler, H
影响因子：
64.8
作者：
Curtis, Christina;Shah, Sohrab P.;Chin, Suet-Feung;Turashvili, Gulisa;Rueda, Oscar M.;Dunning, Mark J.;Speed, Doug;Lynch, Andy G.;Samarajiwa, Shamith;Yuan, Yinyin;Graef, Stefan;Ha, Gavin;Haffari, Gholamreza;Bashashati, Ali;Russell, Roslin;McKinney, Steven;Langerod, Anita;Green, Andrew;Provenzano, Elena;Wishart, Gordon;Pinder, Sarah;Watson, Peter;Markowetz, Florian;Murphy, Leigh;Ellis, Ian;Purushotham, Arnie;Borresen-Dale, Anne-Lise;Brenton, James D.;Tavare, Simon;Caldas, Carlos;Aparicio, Samuel
通讯作者：
Aparicio, Samuel
影响因子：
3.7
作者：
Végran F;Rebucci M;Chevrier S;Cadouot M;Boidot R;Lizard-Nacol S
通讯作者：
Lizard-Nacol S
影响因子：
8.8
作者：
Pharoah, PDP;Day, NE;Caldas, C
通讯作者：
Caldas, C