Abstract：
BACKGROUND:The detection of V600E BRAF mutation in melanoma is fundamental since here BRAF inhibitors represent an effective treatment. Non-V600E BRAF mutations that may also respond are not detected by certain screening methods. Thus, knowledge about detection of these mutations is needed. METHODS:A total of 276 tumour samples from 174 melanoma patients were investigated for BRAF mutations by pyrosequencing. Rare mutations were confirmed by capillary sequencing and compared with findings from COBAS test and immunohistochemistry using a novel BRAF antibody. Melanoma type, localisation, and survival were summarised. RESULTS:BRAF mutations were found in 43% of patients (124 tumours in 75 patients). Among those, 14 patients (18.7%) exhibited rare mutations. The V600EK601del and V600DK601del mutations have never been described before in melanoma. Furthermore, V600K, V600E2, and V600D, V600G, V600R, and L597S mutations were detected. Mutations were not detected by COBAS test in 7 out of these 14 patients and immunohistochemistry only reliably detected patients with the V600E2 and V600EK601del mutation. CONCLUSION:Accurate diagnosis of rare BRAF mutations is crucial. We show that pyrosequencing is accurate, highly sensitive, reliable, and time saving to detect rare BRAF mutations. Missing these rare variant mutations would exclude a subset of patients from available effective BRAF-targeting therapy.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Heinzerling L,Kühnapfel S,Meckbach D,Baiter M,Kaempgen E,Keikavoussi P,Schuler G,Agaimy A,Bauer J,Hartmann A,Kiesewetter F,Schneider-Stock Rdoi
10.1038/bjc.2013.143subject
Has Abstractpub_date
2013-05-28 00:00:00pages
2164-71issue
10eissn
0007-0920issn
1532-1827pii
bjc2013143journal_volume
108pub_type
杂志文章abstract：:Although epithelial cell adhesion/activating molecule (EpCAM/CD326) is one of the first tumour-associated antigens identified, it has never received the same level of attention as other target proteins for therapy of cancer. It is also striking that ever since its discovery in the late 1970s the actual contribution of...
journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1038/sj.bjc.6603494
更新日期：2007-02-12 00:00:00
abstract：:The association between Ki-ras mutations and proliferation activity was investigated in a comprehensive series of biliary tract carcinomas (BTCs). We precisely microdissected samples of tissue from paraffin-embedded sections of 77 BTCs including 22 intrahepatic cholangiocarcinomas (ICCs), 36 extrahepatic cholangiocarc...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1996.459
更新日期：1996-09-01 00:00:00
abstract：:Based on single agent activities and the additive or synergistic effects of three individual drugs in gastric cancer, we performed a phase II study of a new regimen combining epirubicin, docetaxel and cisplatin (EDP) for unresectable gastric cancer. The patients with histologically confirmed metastatic or recurrent, u...
journal_title：British journal of cancer
pub_type： 临床试验,杂志文章
doi：10.1038/sj.bjc.6601891
更新日期：2004-07-05 00:00:00
abstract：:Antibody drug conjugates (ADCs) employ the exquisite specificity of tumour-specific monoclonal antibodies (mAb) for the targeted delivery of highly potent cytotoxic drugs to the tumour site. The chemistry of the linker, which connects the drug to the mAb, determines how and when the drug is released from the mAb. This...
journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1038/bjc.2017.367
更新日期：2017-12-05 00:00:00
abstract：:The patterns of early and late relapses (those occurring later than 3 years after diagnosis) in 432 patients achieving complete remission after treatment for stage I and II Hodgkin's disease at the Royal Marsden Hospital between 1964 and 1983 were studied to identify factors predicting for late relapse. The incidence ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1989.257
更新日期：1989-08-01 00:00:00
abstract：:Metastasis of colorectal carcinomas rarely occurs in cirrhotic livers. Our study investigated the influence of activated Kupffer cells from cirrhotic rat livers on hepatic colonization and FasR-mediated apoptosis of colon cancer cells. A rat colon cancer cell line, RCN-9, was used to inoculate rat livers. Treatment wi...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.2000.1737
更新日期：2001-05-04 00:00:00
abstract：:Although the presence of axillary node metastases in breast cancer is a key prognostic indicator and may influence treatment decisions, a significant proportion of patients diagnosed as axillary node negative (ANN) using standard histopathological techniques may have occult nodal metastases (OMs). A combination of lim...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1996.16
更新日期：1996-01-01 00:00:00
abstract：BACKGROUND:Consumption of wholegrain (WG) products may protect against colon and rectal cancer. METHODS:The associations between total and individual WG product consumption and colon and rectal cancer risk were prospectively examined using data on 461 incident cases of colon cancer and 283 incident cases of rectal can...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6605806
更新日期：2010-08-24 00:00:00
abstract：:Since 1975, 191 patients with Hodgkin's disease have been treated with a combination of chlorambucil, vinblastine, procarbazine and prednisolone (ChlVPP). Complete remission rates were 73% for previously untreated patients, 91% for patients previously treated with radiotherapy and 55% for patients previously treated w...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1982.137
更新日期：1982-06-01 00:00:00
abstract：:Thirty-four patients with progressive low grade non-Hodgkin's lymphoma were treated with 1 microgram oral alfacalcidol daily. Complete response was seen in four patients and a partial response in four patients with an overall response rate of 24%. Median duration of response was 14 months. Disease stabilised in ten ot...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1991.108
更新日期：1991-03-01 00:00:00
abstract：:Studies in animal tumour models of colorectal cancer suggest that F(ab')2 antibody fragments to carcinoembryonic antigen (CEA) labelled with iodine-131 give superior therapy compared with intact anti-CEA antibody. The purpose of this study was to investigate this hypothesis in patients. Ten patients received intact A5...
journal_title：British journal of cancer
pub_type： 临床试验,杂志文章
doi：10.1038/bjc.1994.338
更新日期：1994-09-01 00:00:00
abstract：:To: (1) estimate the prevalence of clinically significant emotional distress in patients attending a cancer outpatient department and (2) determine the associations between distress and demographic and clinical variables, we conducted a survey of outpatients attending selected clinics of a regional cancer centre in Ed...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6603626
更新日期：2007-03-26 00:00:00
abstract：:Ductal carcinoma in situ (DCIS) now represents 20-25% of all 'breast cancers' consequent upon detection by population-based breast cancer screening programmes. Currently, all DCIS lesions are treated, and treatment comprises either mastectomy or breast-conserving surgery supplemented with radiotherapy. However, most D...
journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1038/s41416-019-0478-6
更新日期：2019-08-01 00:00:00
abstract：:An economic sub-study was run alongside a large multi-centre randomised trial (MRC-CR06) comparing three chemotherapy regimens; de Gramont, Lokich and raltitrexed in patients with metastatic colorectal cancer. Patients in six of 45 centres in the main trial were approached to take part in the sub-study. Chemotherapy d...
journal_title：British journal of cancer
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1038/sj.bjc.6600273
更新日期：2002-06-05 00:00:00
abstract：:Epidermal growth factor receptor (EGFR) was studied in ovarian tumours with immunohistochemical (IH) and ligand-binding assay (LBA). Two different monoclonal antibodies (MoAbs: 2E9, EGFR1) with respect to detecting EGFR with different ligand-binding affinities (low, high and low) were used. When comparing the IH data ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1992.403
更新日期：1992-12-01 00:00:00
abstract：:ERBB2 is frequently amplified in breast tumours as part of a wide region of amplification on chromosome 17q21. This amplicon contains many candidate genes for breast cancer susceptibility. We used a genetic association study design to determine if common genetic variation (frequency>or=5%) in a 400-kb region surroundi...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6603473
更新日期：2006-12-18 00:00:00
abstract：:When assessing the value of a particular treatment, it is important to consider the impact it may have on the quality of life of those being treated. This is particularly so for cancer patients, whose life expectancy may be short. Patients with advanced colorectal cancer who participated in two international comparati...
journal_title：British journal of cancer
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1038/bjc.1998.420
更新日期：1998-01-01 00:00:00
abstract：:Photodynamic therapy (PDT) using Photofrin was used in combination with a hypoxic toxin (mitomycin C, MMC) to treat four patients with recurrent skin metastasis of a mammary carcinoma. In preclinical experiments an additive effect was found for the combination of MMC and PDT for treating subcutaneous RIF1 tumours in m...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1996.186
更新日期：1996-04-01 00:00:00
abstract：BACKGROUND:Cancer/testis-antigens (CTAs) are specifically expressed in human malignancies and testis tissue, but their molecular functions are poorly understood. CTAs serve as regulators of gene expression, cell cycle and spermatogenesis, as well as targets for immune-based therapies. The CTA PRAME is expressed in vari...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2016.187
更新日期：2016-08-09 00:00:00
abstract：BACKGROUND:Detection of metastatic spread of head and neck cancer to cervical lymph nodes is essential for optimal design of therapy. Undetected metastases lead to mortality, which can be prevented by better detection methods. METHODS:We analysed 41 lymph nodes from 19 patients with oral squamous cell carcinoma (OSCC)...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2017.408
更新日期：2018-02-06 00:00:00
abstract：BACKGROUND:Global hypomethylation has been suggested to cause genomic instability and lead to an increased risk of cancer. We examined the association between the global methylation level of peripheral blood leukocyte DNA and breast cancer among Japanese women. METHODS:We conducted a hospital-based case-control study ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2014.223
更新日期：2014-05-27 00:00:00
abstract：:Leukaemia L 1210 cells preincubated in vitro with neuraminidase preparations derived either from Vibrio cholerae (VCN) or Clostridium perfringens (CPN) lost their i.p. transplantability for normal DBA/2 mice. This loss of transplantability could not be observed when the enzyme treated cells were implanted in mice whos...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1973.14
更新日期：1973-02-01 00:00:00
abstract：:The WWOX (WW-domain containing oxidoreductase) is a candidate tumour suppressor gene spanning the same chromosome region, 16q23, as the second most common fragile site (FS), FRA16D. Deletions detected by comparative genomic hybridisation (CGH) and loss of heterozygosity at microsatellite markers on chromosome 16q are ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6602023
更新日期：2004-08-16 00:00:00
abstract：:Diffuse invasion of the brain, an intrinsic property of gliomas, renders these tumours incurable, and is a principal determinant of their spatial and temporal growth. Knowledge of the invasive potential of gliomas is highly desired in order to understand their behaviour in vivo. Comprehensive ex vivo invasion studies ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6602048
更新日期：2004-08-16 00:00:00
abstract：:There is increasing evidence that essential fatty acids (EFA) may have a role to play in the aetiology of some types of cancer although their precise mode of action is unknown. Differences in the metabolism of EFA between patients with benign or malignant prostatic disease may help to elucidate their role in the latte...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1991.481
更新日期：1991-12-01 00:00:00
abstract：BACKGROUND:Although salt intake is considered a probable risk factor for gastric cancer, relevant studies have provided heterogeneous results, and the magnitude of the association has not been accurately quantified. METHODS:To quantify gastric cancer risk in relation to dietary salt exposure according to Helicobacter ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6605993
更新日期：2011-01-04 00:00:00
abstract：BACKGROUND:Cytosolic deacetylase histone deacetylase 6 (HDAC6) is involved in the autophagy degradation pathway of malformed proteins, an important survival mechanism in cancer cells. We evaluated modulation of autophagy-related proteins and cell death by the HDAC6-selective inhibitor C1A. METHODS:Autophagy substrates...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/s41416-018-0232-5
更新日期：2018-11-01 00:00:00
abstract：:Trastuzumab has significantly improved the overall survival of patients with HER2+ metastatic breast cancer (MBC). However, outcomes can vary, with patients progressing within 1 year of treatment or exceptional cases of complete response to trastuzumab for ≥10 years. Identification of the underlying genomic aberration...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/s41416-020-0999-z
更新日期：2020-10-01 00:00:00
abstract：:Serum levels of pepsinogen and gastrin are parameters that can be used as biomarkers for gastric mucosa. The aim of this study was to validate these serum biomarkers, that is pepsinogen A (PGA), pepsinogen C (PGC), PGA/PGC ratio, and gastrin, as screening tests for precancerous lesions: atrophic chronic gastritis (ACG...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6600877
更新日期：2003-04-22 00:00:00
abstract：:Prostate-specific antigen (PSA) is a serine protease secreted at low levels by normal luminal epithelial cells of the prostate and in significantly higher levels by prostate cancer cells. Therefore, PSA is a potential target for various immunotherapeutical approaches against prostate cancer. DNA vaccination has been i...
journal_title：British journal of cancer
pub_type： 临床试验,杂志文章
doi：10.1038/sj.bjc.6602019
更新日期：2004-08-16 00:00:00
