PIK3CA and TP53 gene mutations in human breast cancer tumors frequently detected by ion torrent DNA sequencing.
PIK3CA and TP53 gene mutations in human breast cancer tumors frequently detected by ion torrent DNA sequencing.
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DOI：
10.1371/journal.pone.0099306
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Gao J
中科院分区：
文献类型：
--
作者：
Bai X;Zhang E;Ye H;Nandakumar V;Wang Z;Chen L;Tang C;Li J;Li H;Zhang W;Han W;Lou F;Zhang D;Sun H;Dong H;Zhang G;Liu Z;Dong Z;Guo B;Yan H;Yan C;Wang L;Su Z;Li Y;Jones L;Huang XF;Chen SY;Gao J
乳腺癌是最常见的恶性肿瘤，也是全世界妇女癌症死亡的主要原因。虽然特定的基因突变与5-10%的乳腺癌病例有关，但其他环境和表观遗传因素影响癌症的发展和进展。由于在个体癌症样本中观察到独特的突变模式，因此需要鉴定和表征独特的乳腺癌分子谱以开发更有效的靶向治疗。直到最近，通过个性化DNA测序来识别遗传癌症突变是不切实际和昂贵的。下一代DNA测序的最新技术进步，如基于生物传感器的Ion Torrent测序平台，使DNA测序具有更高的成本和时间效益，结果更可靠。使用Ion Torrent Ampliseq Cancer Panel，我们对来自45个癌症相关基因的737个位点进行了测序，以确定105个人类乳腺癌样本中的基因突变。测序分析揭示了不同组织学类型的乳腺癌样本中PIK 3CA和TP 53基因的错义突变。因此，这项研究证明了对个体人类癌症进行测序的必要性，以便开发个性化药物或联合疗法，以有效地靶向个体乳腺癌特异性突变。
Breast cancer is the most common malignancy and the leading cause of cancer deaths in women worldwide. While specific genetic mutations have been linked to 5–10% of breast cancer cases, other environmental and epigenetic factors influence the development and progression of the cancer. Since unique mutations patterns have been observed in individual cancer samples, identification and characterization of the distinctive breast cancer molecular profile is needed to develop more effective target therapies. Until recently, identifying genetic cancer mutations via personalized DNA sequencing was impractical and expensive. The recent technological advancements in next-generation DNA sequencing, such as the semiconductor-based Ion Torrent sequencing platform, has made DNA sequencing cost and time effective with more reliable results. Using the Ion Torrent Ampliseq Cancer Panel, we sequenced 737 loci from 45 cancer-related genes to identify genetic mutations in 105 human breast cancer samples. The sequencing analysis revealed missense mutations in PIK3CA, and TP53 genes in the breast cancer samples of various histologic types. Thus, this study demonstrates the necessity of sequencing individual human cancers in order to develop personalized drugs or combination therapies to effectively target individual, breast cancer-specific mutations.
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影响因子：
4.9
作者：
Obiorah I;Jordan VC
通讯作者：
Jordan VC
影响因子：
11.5
作者：
Perez-Tenorio, Gizeh;Alkhori, Liza;Stal, Olle
通讯作者：
Stal, Olle
影响因子：
4.1
作者：
Beadling, Carol;Neff, Tanaya L.;Corless, Christopher L.
通讯作者：
Corless, Christopher L.
影响因子：
4.6
作者：
Montemurro, Filippo;Valabrega, Giorgio;Aglietta, Massimo
通讯作者：
Aglietta, Massimo
DOI：
10.1186/bcr1675
发表时间：
2007
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Langerød A;Zhao H;Borgan Ø;Nesland JM;Bukholm IR;Ikdahl T;Kåresen R;Børresen-Dale AL;Jeffrey SS
通讯作者：
Jeffrey SS