Abstract：
BACKGROUND:Genome-wide association studies (GWASs) have enriched the fields of genomics and drug development. Adrenocortical carcinoma (ACC) is a rare cancer with a bimodal age distribution and inadequate treatment options. Paediatric ACC is frequently associated with TP53 mutations, with particularly high incidence in Southern Brazil due to the TP53 p.R337H (R337H) germline mutation. The heterogeneous risk among carriers suggests other genetic modifiers could exist. METHODS:We analysed clinical, genotype and gene expression data derived from paediatric ACC, R337H carriers, and adult ACC patients. We restricted our analyses to single nucleotide polymorphisms (SNPs) previously identified in GWASs to associate with disease or human traits. RESULTS:A SNP, rs971074, in the alcohol dehydrogenase 7 gene significantly and reproducibly associated with allelic differences in ACC age-of-onset in both cohorts. Patients homozygous for the minor allele were diagnosed up to 16 years earlier. This SNP resides in a gene involved in the retinoic acid (RA) pathway and patients with differing levels of RA pathway gene expression in their tumours associate with differential ACC progression. CONCLUSIONS:These results identify a novel genetic component to ACC development that resides in the retinoic acid pathway, thereby informing strategies to develop management, preventive and therapeutic treatments for ACC.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Surakhy M,Wallace M,Bond E,Grochola LF,Perez H,Di Giovannantonio M,Zhang P,Malkin D,Carter H,Parise IZS,Zambetti G,Komechen H,Paraizo MM,Pagadala MS,Pinto EM,Lalli E,Figueiredo BC,Bond GLdoi
10.1038/s41416-020-0764-3subject
Has Abstractpub_date
2020-04-01 00:00:00pages
1231-1241issue
8eissn
0007-0920issn
1532-1827pii
10.1038/s41416-020-0764-3journal_volume
122pub_type
杂志文章abstract：:Peutz-Jeghers syndrome (PJS) and juvenile polyposis (JPS) are both characterized by the presence of hamartomatous polyps and increased risk of malignancy in the gastrointestinal tract. Mutations of the LKB1 and SMAD4 genes have been shown recently to cause a number of PJS and JPS cases respectively, but there remains ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.2001.1800
更新日期：2001-05-18 00:00:00
abstract：:Epidemiology has shown an association between exposure to extremely low frequency (ELF) electromagnetic fields (EMF) and childhood leukaemia. The causal nature and biological basis of this association are however questionable. Studies with aneuploid cell lines raised the hypothesis that ELF EMF may act as a coleukaemo...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6601010
更新日期：2003-06-16 00:00:00
abstract：:Magnetic resonance spectroscopy is increasingly used as a non-invasive method to investigate apoptosis. Apoptosis was induced in Jurkat T-cells by Fas mAb. (1)H magnetic resonance spectra of live cells showed an increase in methylene signal as well as methylene/methyl ratio of fatty acid side chains at 5 and 24 h foll...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6600188
更新日期：2002-03-18 00:00:00
abstract：:Experimental studies show that vitamin D derivatives are potent anticarcinogenic factors. Epidemiological observations support this, and vitamin D sufficiency has been hypothesised to be an important risk-reducing factor in several forms of cancer. Vitamin D level exhibits seasonal variations. In the present work, we ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6602722
更新日期：2005-09-05 00:00:00
abstract：BACKGROUND:To evaluate the anticancer activity of erlotinib in patients with previously treated, advanced non-small cell lung cancer (NSCLC) whose dose is increased to that associated with a maximal level of tolerable skin toxicity (i.e., target rash (TR)); to characterise the pharmacokinetics (PK) and pharmacodynamics...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2011.332
更新日期：2011-09-27 00:00:00
abstract：:Even though the majority of patients with bladder malignancies initially present with low stage disease, the clinical epidemiology of these so-called superficial bladder tumours is not well known. In this paper, disease characteristics at initial presentation and during follow-up are described in 1,745 primary cases d...
journal_title：British journal of cancer
pub_type： 杂志文章,多中心研究
doi：10.1038/bjc.1993.147
更新日期：1993-04-01 00:00:00
abstract：:Axillary lymph nodes draining mammary carcinoma showed an alteration of both micro-architectue and lymphocyte subpopulations. Lymph nodes with a normal or increased T and/or B lymphocyte compartment (assessed by histology) had a low incidence of nodal tumour spread, whilst hypocellularity of the T- or B-lymphocyte-dep...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1980.8
更新日期：1980-01-01 00:00:00
abstract：:We have determined the methylation status of the CpG island of the oestrogen receptor alpha gene in seven human ovarian cell lines. Cell lines expressing oestrogen receptor alpha showed no evidence of hypermethylation. In three of four cell lines that produced no detectable oestrogen receptor alpha protein, hypermethy...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6600028
更新日期：2002-01-21 00:00:00
abstract：:The effect of the combined administration of doxorubicin (DX) and verapamil (VRP) on the induction of DX resistance of B16 melanoma cells, was investigated both in vitro and in vivo. Cells grown in the presence of increasing concentrations of DX and of 1 microM VRP, tested at several passages, were more resistant than...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1988.79
更新日期：1988-04-01 00:00:00
abstract：:Recently, we have found a high frequency of p53 gene mutations in human functional adrenal tumours. As the tumorigenesis is a multigene defect, we believe that other oncogenes may also be involved in the initiation or progression of adrenal tumours. Using the single-strand conformational polymorphism (SSCP) method, we...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1998.177
更新日期：1998-04-01 00:00:00
abstract：:Local recurrence of glioblastomas is a major cause of patient mortality after definitive treatment. This review discusses the roles of the chemokine stromal cell-derived factor-1 and its receptor CXC chemokine receptor 4 (CXCR4) in affecting the sensitivity of glioblastomas to irradiation. Blocking these molecules pre...
journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1038/bjc.2011.169
更新日期：2011-06-07 00:00:00
abstract：BACKGROUND:MiR-125b has critical role in non-small-cell lung cancer (NSCLC) cell migration, and its target genes have not been elucidated. Kinesin-1 light chain (KLC)-2 was predicted as one of miR-125b's targets by bioinformatics analysis. This study is to identify the function of KLC2 and its interaction with miR-125b...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2015.3
更新日期：2015-03-03 00:00:00
abstract：BACKGROUND:We evaluated the association between smoking status and thyroid cancer risk and whether this association is mediated by body mass index (BMI) and thyroid-stimulating hormone (TSH). METHODS:We performed a cohort study of 96,855 Korean adults who were followed annually or biennially for a median of 5.9 years....
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/s41416-018-0224-5
更新日期：2018-08-01 00:00:00
abstract：:All hospital-treated cases of Burkitt's lymphoma (BL), with onset of symptoms in the period 1963-68 and resident in the Lango and Acholi districts of Uganda, were identified. The average annual incidence of BL in the 6-year period was 1-87 X 10(-5), similar to that in the adjacent West Nile district. Contrary to findi...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1977.102
更新日期：1977-05-01 00:00:00
abstract：:Expression of vascular endothelial growth factor (VEGF), an important angiogenic factor in colon cancer, is tightly regulated by factors in the microenvironment. However, specific factors indigenous to the organ microenvironment of colon cancer growth that regulate VEGF expression in human colon cancer are not well de...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6690553
更新日期：1999-07-01 00:00:00
abstract：:Using the DMBA-induced mammary tumour as a model, the effect of hormone manipulation on steroid sulphurylation and on oxidative and reductive metabolism has been investigated. Oestradiol-17 beta, or oestradiol-17 beta + progesterone, administered to oophorectomized animals, had no effect on adenosine-3'-phosphate-5'-p...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1980.14
更新日期：1980-01-01 00:00:00
abstract：BACKGROUND:Chronic antigenic stimulation may initiate non-Hodgkin (NHL) and Hodgkin lymphoma (HL) development. Antecedent, infection-related conditions have been associated, but evidence by lymphoproliferative subtype is limited. METHODS:From the US SEER-Medicare database, 44,191 NHL, 1832 HL and 200,000 population-ba...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2014.173
更新日期：2014-05-27 00:00:00
abstract：:Over a 10 year period, between 1974-1984, 257 adult cases of tissue sarcoma have been evaluated in the Department of Medical Oncology, Christie Hospital, Manchester. At registration locally advanced or metastatic diseases was present in 162 (63%). The male/female ratio was 1.5:1 and median age 54 years (range 14-85). ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1985.43
更新日期：1985-03-01 00:00:00
abstract：:The carcinoembryonic antigen (CEA) was produced and released by human colorectal carcinomata and also the normal attached mucosa when maintained in both monolayer and organ culture. Immunoperoxidase cytochemical methods were employed for the cellular localization of CEA which was demonstrable only on the neoplastic ce...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1975.97
更新日期：1975-05-01 00:00:00
abstract：:Hepatic infiltration by lymphoma can be difficult to detect by conventional methods. We have studied 22 patients in vivo 31P magnetic resonance spectroscopy of the liver and compared the results with the clinical staging and assessment of liver involvement by computed tomography (CT), ultrasound (US), and liver functi...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1991.208
更新日期：1991-06-01 00:00:00
abstract：:An initial report suggested that patients homozygous for the arginine allele at codon 72 of P53 were at increased risk for human papillomavirus (HPV)-related cervical cancer, but other groups have not confirmed this finding. Since approximately 18-36% of head and neck cancers are HPV-related, we examined the genotypic...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.1999.0993
更新日期：2000-02-01 00:00:00
abstract：:The relationship between circulating C-reactive protein concentrations and potential cytokine and receptor mediators (interleukin-6, leukaemia inhibitory factor (LIF), ciliary neurotrophic factor (CNTF), soluble IL-6 receptor, soluble gp130, soluble TNF receptor, interleukin-1 receptor antagonist and interleukin-8 (IL...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6602248
更新日期：2004-12-13 00:00:00
abstract：BACKGROUND:Older women have lower breast cancer surgery rates than younger women. UK policy states that differences in cancer treatment by age can only be justified by patient choice or poor health. METHODS:We investigate whether lack of surgery for older patients is explained by patient choice/poor health in a prospe...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2013.734
更新日期：2014-02-04 00:00:00
abstract：:Some cancer cells depend on the function of specific molecules for their growth, survival, and metastatic potential. Targeting of these critical molecules has arguably been the best therapy for cancer as demonstrated by the success of tamoxifen and trastuzumab in breast cancer. This review will evaluate the type I IGF...
journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1038/sj.bjc.6602963
更新日期：2006-02-27 00:00:00
abstract：BACKGROUND:PI3K/Akt (PKB) pathway has been shown in several cell types to be activated by ligands to cell surface integrins, leading to the metastasis of tumour cells. The signalling pathways involved in the metastatic spread of human scirrhous gastric carcinoma cells have not been defined. METHODS:The role of the PI3...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2012.107
更新日期：2012-04-24 00:00:00
abstract：:In order to elucidate the clinical significance of the erbB family, epidermal growth factor receptor (EGF-R), c-erbB-2, c-erbB-3 and c-erbB-4 in hepatocellular carcinoma (HCC), we investigated the expression of these proteins by means of immunohistochemistry for HCC as well as adjacent noncancerous lesions. EGF-R was ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.2000.1580
更新日期：2001-05-18 00:00:00
abstract：:The cardiotoxicity of 5-fluorouracil (FU) was attributed to impurities present in the injected vials. One of these impurities was identified as fluoroacetaldehyde which is metabolised by isolated perfused rabbit hearts into fluoroacetate (FAC), a highly cardiotoxic compound. FAC was also detected in the urine of patie...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1992.227
更新日期：1992-07-01 00:00:00
abstract：:In a case-control study, we investigated 169 women aged 15-49 years with malignant melanoma notified to the Oxford and South Western cancer registries during the years 1971-1976, together with 507 matched controls. Data about medical, reproductive, drug and smoking histories were obtained both by reviewing general pra...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1981.145
更新日期：1981-07-01 00:00:00
abstract：:Hypoxic cells in KHT sarcomas were characterized using fluorescence activated cell sorting based on the diffusion properties of the fluorochrome Hoechst 33342. Tumour-bearing female C3H/HeJ mice were injected i.v. with 10 micrograms g-1 Hoechst 33342 and the cells derived from the tumours sorted on the basis of their ...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1988.207
更新日期：1988-09-01 00:00:00
abstract：:Increased 2'-deoxy-2'-[18F]fluoro-D-glucose (FDG) uptake is the most commonly used marker for positron emission tomography in oncology. However, a proliferation tracer such as 3'-deoxy-3'-[18F]fluorothymidine (FLT) might be more specific for cancer. 3'-deoxy-3'-[18F]fluorothymidine uptake is dependent on thymidine kin...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6604523
更新日期：2008-08-05 00:00:00
