Detection of HER2 amplification in circulating free DNA in patients with breast cancer

被引：77

作者：

Page, K. ^{[1
]}

Hava, N. ^{[2
]}

Ward, B. ^{[2
]}

Brown, J. ^{[1
]}

Guttery, D. S. ^{[1
]}

Ruangpratheep, C. ^{[1
]}

Blighe, K. ^{[1
]}

Sharma, A. ^{[3
]}

Walker, R. A. ^{[1
]}

Coombes, R. C. ^{[2
]}

Shaw, J. A. ^{[1
]}

机构：

[1] Univ Leicester, Leicester Royal Infirm, Dept Canc Studies & Mol Med, Leicester LE2 7LX, Leics, England

[2] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp Trust, Hammersmith Hosp, Dept Oncol, London W12 ONN, England

[3] Charing Cross Hosp, Dept Med Oncol, London W6 8RF, England

来源：

BRITISH JOURNAL OF CANCER | 2011年 / 104卷 / 08期

关键词：

breast cancer; tumour markers; HER2; amplification; quantitative PCR; REAL-TIME PCR; HER-2/NEU GENE AMPLIFICATION; IN-SITU HYBRIDIZATION; TUMOR-CELLS; BONE-MARROW; STAGE-I; OVEREXPRESSION; IMMUNOHISTOCHEMISTRY; SURVIVAL; THERAPY;

D O I：

10.1038/bjc.2011.89

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

BACKGROUND: Human epidermal growth factor receptor 2 (HER2) is amplified and overexpressed in 20-25% of breast cancers. This study investigated circulating free DNA (cfDNA) for detection of HER2 gene amplification in patients with breast cancer. METHODS: Circulating free DNA was extracted from plasma of unselected patients with primary breast cancer (22 before surgery and 68 following treatment), 30 metastatic patients and 98 female controls using the QIAamp Blood DNA Mini Kit (Qiagen). The ratio of HER2 to an unamplified reference gene (contactin-associated protein 1 (CNTNAP1)) was measured in cfDNA samples by quantitative PCR (qPCR) using SK-BR-3 cell line DNA as a positive control. RESULTS: We validated the qPCR assay with DNA extracted from 23 HER2 3+ and 40 HER2-negative tumour tissue samples; the results agreed for 60 of 63 (95.2%) tumours. Amplification was detected in cfDNA for 8 of 68 patients following primary breast cancer treatment and 5 of 30 metastatic patients, but was undetected in 22 patients with primary breast cancer and 98 healthy female controls. Of the patients with amplification in cfDNA, 10 had HER2 3+ tumour status by immunohistochemistry. CONCLUSIONS: The results demonstrate for the first time the existence of amplified HER2 in cfDNA in the follow-up of breast cancer patients who are otherwise disease free. This approach could potentially provide a marker in patients with HER2-positive breast cancer. British Journal of Cancer (2011) 104, 1342-1348. doi:10.1038/bjc.2011.89 www.bjcancer.com Published online 22 March 2011 (C) 2011 Cancer Research UK

引用

页码：1342 / 1348

页数：7

共 30 条

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Evaluating HER2 amplification and overexpression in breast cancer [J].