Abstract:
:A registry including information about nearly 1,600 cases of retinoblastoma diagnosed in Britain has been created at the Childhood Cancer Research Group. Cases have been classified as 'old germ cell mutation', 'new germ cell mutation' or 'sporadic non-hereditary'. For a population-based group of 918 cases diagnosed between 1962 and 1985 we have calculated the proportions of unilateral/bilateral and hereditary/non-hereditary cases. Bilateral cases represent 40% of the total number over this period; the proportion known to be hereditary is 44%, a higher proportion than has been reported elsewhere. By following up selected groups of cases, an estimate has been made of the proportions of siblings of retinoblastoma patients and offspring of survivors from retinoblastoma who are themselves affected with the disease. Where there is no previous family history, the risk for siblings of retinoblastoma patients of developing the disease is approximately 2% if the disease in the affected child is bilateral and 1% if it is unilateral, assuming that there are no other siblings; if there are unaffected siblings the risks for subsequent children are lower. Children of patients with hereditary retinoblastoma have a one in two chance of carrying the germ cell mutation and for those who are carriers the probability of developing retinoblastoma is very close to the accepted figure of 90% if the parents have bilateral retinoblastoma but probably less if they have the unilateral form. For children of patients not known to be carriers, the probability of developing retinoblastoma is estimated to be about 1%, considerably lower than the previously accepted figure of about 5%. Retinoblastoma kindreds consist mainly of bilateral cases but there is evidence that some kindreds have a high proportion of unilateral cases. The ways in which these findings may be used in conjunction with modern techniques of molecular biology for prenatal and postnatal genetic counselling are discussed.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Draper GJ,Sanders BM,Brownbill PA,Hawkins MMdoi
10.1038/bjc.1992.244subject
Has Abstractpub_date
1992-07-01 00:00:00pages
211-9issue
1eissn
0007-0920issn
1532-1827journal_volume
66pub_type
杂志文章abstract::Portal vein embolisation (PVE) is used to increase the remnant liver volume before major liver resection for colorectal metastases. The resection rate after PVE is 60-70%, mainly limited by disease progression. The effect of PVE on tumour growth rate has not been investigated. The objective of this study was to compar...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6604872
更新日期:2009-02-24 00:00:00
abstract::Lymph node pathologic status is the most important prognostic factor in vulvar cancer; however, complete inguinofemoral node dissection is associated with significant morbidity. Lymphoscintigraphy associated with gamma-probe guided surgery reliably detects sentinel nodes in melanoma and breast cancer patients. This st...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1054/bjoc.1999.0918
更新日期:2000-01-01 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::gamma-Irradiated rat hepatoma cells are immunogenic in syngeneic WAB/Not rats, so that immunized animals are protected against tumour-cell challenge and circulating tumour-specific antibody is produced. Treatment of the immunizing cells with glutaraldehyde at concentrations of 0.001% or greater for 30 min rendered the...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1979.113
更新日期:1979-06-01 00:00:00
abstract:BACKGROUND:Upregulation of the matrix metalloproteinases MMP-2 and MMP-9 in various cancers has been associated with worse survival of the patients. METHODS:We assessed MMP-2 and MMP-9 levels in normal colorectal mucosa from colorectal cancer patients in relation to the course of the disease. RESULTS:A high protein e...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2012.80
更新日期:2012-04-24 00:00:00
abstract:BACKGROUND:Little is known about the factors that drive metastasis formation in colorectal cancer (CRC). Here, we set out to identify genes and proteins in patients with colorectal liver metastases that correlate with early disease recurrence. Such factors may predict a propensity for metastasis in earlier stages of CR...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2013.489
更新日期:2013-09-17 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::Comorbid diseases can affect breast cancer prognosis. We conducted a population-based study of Danish women diagnosed with a first primary breast cancer from 1995 to 2005 (n=9300), using hospital discharge registry data to quantify comorbidities by Charlson score. We examined the influence of comorbidities on survival...
journal_title:British journal of cancer
pub_type: 杂志文章,多中心研究
doi:10.1038/sj.bjc.6603717
更新日期:2007-05-07 00:00:00
abstract::Gain of 1q is one of the most common alterations in cancer and has been associated with adverse clinical behaviour in ependymoma. The aim of this study was to investigate this region to gain insight into the role of 1q genes in intracranial paediatric ependymoma. To address this issue we generated profiles of eleven e...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6604651
更新日期:2008-10-07 00:00:00
abstract::In the BUPA study, a prospective study of 22,000 men attending a screening centre in London, the mean serum cholesterol level of the 267 men who developed cancer was 6.66 mmol l-1, not significantly different from the mean level of 6.72 mmol l-1 among the 525 unaffected controls matched for age, smoking history and th...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1989.198
更新日期:1989-06-01 00:00:00
abstract:BACKGROUND:Gene mutations in the RAS family rule out metastatic colorectal carcinomas (mCRCs) from anti-EGFR therapies. METHODS:We report a retrospective analysis by Sequenom Massarray and fast COLD-PCR followed by Sanger sequencing on 240 mCRCs. RESULTS:By Sequenom, KRAS and NRAS exons 2-3-4 were mutated in 52.9% (1...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2017.170
更新日期:2017-07-25 00:00:00
abstract::Hepatocellular carcinoma (HCC) is one of the most malignant human tumours because of its high incidence of metastasis. The mechanisms underlying the metastasis of HCC, however, remain poorly understood. In this study, we performed cDNA microarray analysis to profile gene expression patterns in two subtypes of HCC, sol...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6601749
更新日期:2004-06-14 00:00:00
abstract:BACKGROUND:Low-dose UCN-01 mediates G1 arrest in normal proliferating cell lines with an intact G1 to S transition but not tumour cells with a deregulated G1 to S checkpoint. Here we hypothesised that UCN-01 is effective in mediating a selective, reversible G1 arrest of normal proliferating cells, resulting in decrease...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/s41416-019-0707-z
更新日期:2020-03-01 00:00:00
abstract::Collagen breakdown, and thus bone resorption, can now be assessed by measuring the urinary excretion of the collagen crosslinks, pyridinoline (Pyd) and deoxypyridinoline (Dpd). In a pilot study we measured Pyd and Dpd in 20 patients with breast cancer, ten with known bone metastases and ten with no recognised metastas...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1991.419
更新日期:1991-11-01 00:00:00
abstract:BACKGROUND:There is clinical evidence to suggest that tumour necrosis factor-α (TNF-α) may be a therapeutic target in renal cell carcinoma (RCC). Multi-targeted kinase inhibitors, such as sorafenib and sunitinib, have become standard of care in advanced RCC. The anti-TNF-α monoclonal antibody infliximab and sorafenib h...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6605889
更新日期:2010-10-12 00:00:00
abstract::A retrospective seroepidemiologic study was performed to examine the association between human papillomaviruses (HPV) 16 infection and carcinomas of the oropharynx, the oesophagus, penis and vagina. Sera were selected from the serum bank from the Antoni van Leeuwenhoek Hospital (Netherlands Cancer Institute) and the S...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6600870
更新日期:2003-04-07 00:00:00
abstract::In the years 1979-1982, 83 patients with malignant teratoma of the testis who had retroperitoneal adenopathy at presentation or after a period of surveillance were treated. Complete radiological resolution of disease was obtained in 34 patients and a residual mass remained in 26, the remainder having progression of th...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1986.105
更新日期:1986-05-01 00:00:00
abstract:BACKGROUND:The community-based incidence of cancer treatment-related long-term consequences is uncertain. We sought to establish the burden of health outcomes that have been associated with treatment among British long-term cancer survivors. METHODS:We identified 26,213 adults from the General Practice Research Databa...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2011.420
更新日期:2011-11-08 00:00:00
abstract::The utility of external beam radiotherapy for the treatment of malignant brain tumours is compromised by the need to avoid excessive radiation damage to normal CNS tissues. This review describes the current status of targeted radiotherapy, an alternative strategy for brain tumour treatment that offers the exciting pro...
journal_title:British journal of cancer
pub_type: 杂志文章,评审
doi:10.1038/sj.bjc.6601771
更新日期:2004-04-19 00:00:00
abstract::The geographical distribution of mortality from mesothelioma of the pleura during the years 1968-78 in England and Wales has been studied using extracts from the death records held by the Office of Population Censuses and Surveys. Using the national death rate as standard, Local Authority areas with raised mortality a...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1982.168
更新日期:1982-07-01 00:00:00
abstract:BACKGROUND:MEK is activated in ∼40% colorectal cancer (CRC) and 20-30% non-small cell lung cancer (NSCLC). Selumetinib is a selective inhibitor of MEK1/2, which is currently in clinical development. METHODS:We evaluated the effects of selumetinib in vitro and in vivo in CRC and NSCLC cell lines to identify cancer cell...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2012.129
更新日期:2012-05-08 00:00:00
abstract::An extensive analysis of the reliability of positron emission tomography (PET) after induction treatment in patients with Hodgkin's disease (HD) or aggressive non-Hodgkin's lymphoma (NHL). In all, 75 untreated patients with HD (n=41) or aggressive NHL (n=34) were studied with both PET and CT scans following standard c...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6602040
更新日期:2004-08-31 00:00:00
abstract::The reaction patterns of eight antibodies directed against blood group substances A, B and H, respectively, against Lewis B antigen, difucosylated carbohydrate antigens (DFCA), gastrointestinal cancer antigen CA 19-9 (GICA), carcinoma-associated antigen CA-50 and CEA, were studied in 68 rectal carcinomas using the avi...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1987.102
更新日期:1987-05-01 00:00:00
abstract::The retinoblastoma gene product (RB) contributes to normal cell growth control. One of its functions is manifest as a block to exit from G1, which is carried out by an RB subspecies which is un- or underphosphorylated. After RB phosphorylation, a process which occurs towards the end of G1 in cycling cells, the block i...
journal_title:British journal of cancer
pub_type: 杂志文章,评审
doi:10.1038/bjc.1993.325
更新日期:1993-08-01 00:00:00
abstract::Sixteen chronic myeloid leukaemia (CML) patients in remission were tested with solubilized membrane antigens from CML leukaemic cells, CML blasts, AML blasts and ALL blasts for cellular immunity in vitro by lymphocyte transformation (LT) and leucocyte migration inhibition (LMI) assays. Twelve CML patients in remission...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1979.193
更新日期:1979-09-01 00:00:00
abstract::Advanced or metastatic disease is common in both oesophagogastric and colorectal cancers, with poor 5-year survival despite palliative chemotherapy. We have investigated the sensitivity of gastrointestinal tumours to gemcitabine in combination with mitomycin C (GeM), using a modified ex vivo ATP-based tumour chemosens...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6601403
更新日期:2003-12-15 00:00:00
abstract::Patients with refractory metastatic renal cell carcinoma (RCC) were enrolled in a phase II study with teniposide (VM26) and cyclosporin A (CSA) to investigate (1) the effect of CSA on the response rate to VM26; and (2) the effect of CSA on the pharmacokinetics and pharmacodynamics of VM26. Sixteen patients initially r...
journal_title:British journal of cancer
pub_type: 临床试验,杂志文章
doi:10.1038/bjc.1997.127
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Vismodegib has been used for the treatment of locally advanced basal cell carcinoma (laBCC) and metastatic BCC (mBCC) since 2011. Most efficacy and safety data are provided by clinical trials. This study evaluates the effectiveness of vismodegib for the treatment of laBCC, mBCC and basal cell nevus syndrome ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/s41416-020-01220-w
更新日期:2021-01-19 00:00:00
abstract::Squamous cell carcinoma and adenocarcinoma of the oesophagus are cancers that develop from distinct epithelial sub-types; however, they are both related to chronic inflammation of differing aetiologies. Inflammation leads to somatically inherited genetic mutations altering control of the cell cycle, DNA replication an...
journal_title:British journal of cancer
pub_type: 杂志文章,评审
doi:10.1038/sj.bjc.6605126
更新日期:2009-07-07 00:00:00
abstract:BACKGROUND:Neutropenia is a common adverse reaction of chemotherapy. We assessed whether chemotherapy-induced neutropenia could be a predictor of survival for patients with non-small-cell lung cancer (NSCLC). METHODS:A total of 387 chemotherapy-naïve patients who received chemotherapy (vinorelbine and gemcitabine foll...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6605348
更新日期:2009-11-03 00:00:00