کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3840096 | 1247889 | 2015 | 16 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Droplet digital polymerase chain reaction assay for screening of ESR1 mutations in 325 breast cancer specimens
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کلمات کلیدی
cfDNALMDERαAISMBCPGRDCISNGSLBDgDNAMGBHER2ddPCRER-positivecell-free DNA - DNA بدون سلولgenomic DNA - DNA ژنومیER+ - ER +FFPE - MEPlaser microdissection - microdissection لیزر لیزرstable disease - بیماری پایدارprogressive disease - بیماری پیشرفتهNext generation sequencing - توالی نسل بعدیligand-binding domain - دامنه اتصال لیگاندMetastatic breast cancer - سرطان متاستاتیک سینهIpsilateral breast tumor recurrence - عود مجدد تومور پستان در سمت راستDroplet digital polymerase chain reaction - قطره واکنش زنجیره ای پلیمراز دیجیتالAromatase inhibitors - مهار کننده های آراماتازformalin-fixed paraffin embedded - پارافین ثابت فرمالین تعبیه شده استPartial response - پاسخ جزئیMinor groove binding - پیوند کوچک جاروبرقیDuctal carcinoma in situ - کارسینوم داکتال در محلAndrogen Receptor - گیرنده آندروژنیEstrogen receptor α - گیرنده استروژن αHuman epidermal growth factor receptor 2 - گیرنده عامل فاکتور رشد اپیدرمی انسان 2hormone receptor - گیرنده هورمونProgesterone receptor - گیرنده پروژسترون
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Droplet digital polymerase chain reaction (ddPCR), which could perform thousands of PCRs on a nanoliter scale simultaneously, would be an attractive method to massive parallel sequencing for identifying and studying the significance of low-frequency rare mutations. Recent evidence has shown that the key potential mechanisms of the failure of aromatase inhibitors-based therapy involve identifying activating mutations affecting the ligand-binding domain of the ESR1 gene. Therefore, the detection of ESR1 mutations may be useful as a biomarker predicting an effect of the treatment. We aimed to develop a ddPCR-based method for the sensitive detection of ESR1 mutations in 325 breast cancer specimens, in which 270 primary and 55 estrogen receptor-positive (ER+) metastatic breast cancer (MBC) specimens. Our ddPCR assay could detect the ESR1 mutant molecules with low concentration of 0.25 copies/μL. According to the selected cutoff, ESR1 mutations occurred in 7 (2.5%) of 270 primary breast cancer specimens and in 11 (20%) of 55 ER+ MBC specimens. Among the 11 MBC specimens, 5 specimens (45.5%) had the most common ESR1 mutation, Y537S, 4 specimens (36.3%) each had D538G, Y537N, and Y537C. Interestingly, 2 patients had 2 ESR1 mutations, Y537N/D538G and Y537S/Y537C, and 2 patients had 3 ESR1 mutations, Y537S/Y537N/D538G. Biopsy was performed in heterochrony in 8 women twice. In 8 women, 4 women had primary breast cancer and MBC specimens and 4 women had 2 specimens when treatment was failure. Four of these 8 women acquired ESR1 mutation, whereas no ESR1 mutation could be identified at first biopsy. ddPCR technique could be a promising tool for the next-generation sequencing-free precise detection of ESR1 mutations in endocrine therapy resistant cases and may assist in determining the treatment strategy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Translational Research - Volume 166, Issue 6, December 2015, Pages 540-553.e2
Journal: Translational Research - Volume 166, Issue 6, December 2015, Pages 540-553.e2
نویسندگان
Takashi Takeshita, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Toko Inao, Aiko Sueta, Saori Fujiwara, Yoko Omoto, Hirotaka Iwase,