Abstract:
:The family history of cancer in children treated for a solid malignant tumour in the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine the role of germline p53 mutations in genetic predisposition to childhood cancer, germline p53 mutations were sought in individuals with at least one relative (first- or second-degree relative or first cousin) affected by any cancer before 46 years of age, or affected by multiple cancers. Screening for germline p53 mutation was possible in 268 index cases among individuals fulfilling selection criteria. Seventeen (6.3%) mutations were identified, of which 13 were inherited and four were de novo. Using maximum likelihood methods that incorporate retrospective family data and correct for ascertainment bias, the lifetime risk of cancer for mutation carriers was estimated to be 73% for males and nearly 100% for females with a high risk of breast cancer accounting for the difference. The risk of cancer associated with such mutations is very high and no evidence of low penetrance mutation was found. These mutations are frequently inherited but de novo mutations are not rare.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Chompret A,Brugières L,Ronsin M,Gardes M,Dessarps-Freichey F,Abel A,Hua D,Ligot L,Dondon MG,Bressac-de Paillerets B,Frébourg T,Lemerle J,Bonaïti-Pellié C,Feunteun Jdoi
10.1054/bjoc.2000.1167subject
Has Abstractpub_date
2000-06-01 00:00:00pages
1932-7issue
12eissn
0007-0920issn
1532-1827pii
S0007092000911674journal_volume
82pub_type
杂志文章abstract:BACKGROUND:Gold(III) porphyrin 1a is a new class of anticancer drug, which inhibits cell proliferation of wide range of human cancer cell lines and induces apoptosis in human nasopharyngeal carcinoma cells. However, the underlying signalling mechanism by which gold(III) porphyrin 1a modifies the intracellular apoptosis...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6605147
更新日期:2009-07-21 00:00:00
abstract::Febrile neutropenia (FN) causes significant morbidity and mortality in patients receiving cytotoxic chemotherapy and can lead to reduced chemotherapy dose intensity and increased overall treatment costs. Antibiotic prophylaxis reduces the incidence of FN. Recent research and meta-analyses confirm that prophylactic flu...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6605270
更新日期:2009-09-01 00:00:00
abstract:BACKGROUND:The eicosanoid signalling pathway promotes the progression of malignancies through the production of proliferative prostaglandins (PGs). Cytosolic phospholipase A(2)α (cPLA(2)α) activity provides the substrate for cyclooxygenase-dependent PG release, and we have previously found that cPLA(2)α expression corr...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6606025
更新日期:2011-01-18 00:00:00
abstract::For the presentation of peptide antigens to cytotoxic CD8+ T lymphocytes of the immune system, the expression of human leukocyte antigen (HLA) class I molecules on the cell surface is necessary. There is increasing evidence that surface HLA class I antigen expression is altered in a variety of human tumours by either ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1997.472
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:The 1997 international consensus conference on renal cell cancer (RCC) prognosis suggested erythrocyte sedimentation rate (ESR), alkaline phosphatase (ALP), and anaemia as prognostic biomarkers, but most studies reviewed were limited by small sample sizes. METHODS:The Cox proportional hazards model was used...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2012.565
更新日期:2013-02-05 00:00:00
abstract::Women with gross cystic breast disease may have an increased risk of breast cancer. In this study the ability of breast cyst fluid (BCF), obtained from British or Hungarian women, to modulate oestrone sulphate (E1S) formation or hydrolysis, has been examined. For this, oestrogen receptor-positive (ER+) MCF-7 or MDA-MB...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1054/bjoc.1999.0948
更新日期:2000-01-01 00:00:00
abstract::Two hundred and thirty five patients with osteosarcoma, aged less than 40 years, and treated by amputation or radiotherapy, were entered in a randomised trial of two forms of adjuvant chemotherapy. A two drug regimen, namely vincristine 2 mg m-2 (maximum 2mg) followed by methotrexate 200 mgm-2, given every three weeks...
journal_title:British journal of cancer
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1038/bjc.1986.81
更新日期:1986-04-01 00:00:00
abstract::In this review, we discuss the recent identification in vivo of a population of CD11c+ cells exhibiting simultaneous expression of both endothelial and dendritic cell markers, termed vascular leukocytes (VLCs). VLCs are highly represented in human ovarian carcinomas and, depending on the milieu, can assemble into func...
journal_title:British journal of cancer
pub_type: 杂志文章,评审
doi:10.1038/sj.bjc.6602476
更新日期:2005-04-11 00:00:00
abstract::Findings in humans and animal models suggest that in utero hormonal and dietary exposures increase later breast cancer risk. Since alcohol intake by adult women consistently increases their breast cancer risk, we wondered whether maternal alcohol consumption during pregnancy increases female offspring's mammary tumori...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6601793
更新日期:2004-06-01 00:00:00
abstract::Cytogenetic investigation was performed on direct preparations of 15 endometrial cancers showing different histotypes. Clonal abnormalities were found in 11 out of 13 analysable cases. The modal chromosome number was near diploid in all cases. The abnormal karyotypes contained relatively simple numerical or structural...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1997.312
更新日期:1997-01-01 00:00:00
abstract::To examine the hypothesis that colorectal carcinomas with and without TP53 mutations may be characterised by aetiological heterogeneity, we analysed a group of 107 patients with primary Dukes' C colorectal cancer seen at the Memorial Sloan-Kettering Cancer Center (MSKCC) from 1986 to 1990. We assessed p53 overexpressi...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1995.171
更新日期:1995-04-01 00:00:00
abstract::The frequency of M-components was studied by agar gel electrophoresis in sera from 807 patients, 467 (57%) females and 340 (43%) males with histologically proven solid malignant neoplasms.M-components were found in the sera of 40 male and 20 female patients. Apart from two known cases of multiple myeloma and one case ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1973.34
更新日期:1973-04-01 00:00:00
abstract::From 1984 to 1989, 63 patients with diffuse, malignant mesothelioma of the pleura were treated with 4-8 courses of high-dose methotrexate (HDMTX, 3 g total dose) and citrovorum factor rescue. There were 61 male and two female patients of median age 60 years. CT scan was performed before and after treatment and used fo...
journal_title:British journal of cancer
pub_type: 临床试验,杂志文章
doi:10.1038/bjc.1992.200
更新日期:1992-06-01 00:00:00
abstract::The addition of lapatinib (Tykerb/Tyverb) to capecitabine (Xeloda) delays disease progression more effectively than capecitabine monotherapy in women with previously treated HER2+ metastatic breast cancer (MBC). The quality-adjusted time without symptoms of disease or toxicity of treatment (Q-TWiST) method was used to...
journal_title:British journal of cancer
pub_type: 杂志文章,随机对照试验
doi:10.1038/sj.bjc.6604501
更新日期:2008-09-02 00:00:00
abstract::Studies of underground miners occupationally exposed to radon have consistently demonstrated an increased risk of lung cancer in both smokers and non-smokers. Radon exposure also occurs elsewhere, especially in houses, and estimates based on the findings for miners suggest that residential radon is responsible for abo...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1998.506
更新日期:1998-08-01 00:00:00
abstract:BACKGROUND:When tumour tissue is unavailable, cell-free DNA (cfDNA)can serve as a surrogate for genetic analyses. Because mutated alleles in cfDNA are usually below 1%, next-generation sequencing (NGS)must be narrowed to target only clinically relevant genes. In this proof-of-concept study, we developed a panel to use ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2017.8
更新日期:2017-03-14 00:00:00
abstract::Acute inflammatory reactions were induced in rats by the intravenous injection of cellulose sulphate (CS) or an extract of normal rat lung homogenate (LH), or by intraperitoneal injections of Compound 48/80. These treatments greatly increased survival and clonogenic growth in the lungs of rats of intravenously injecte...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1974.189
更新日期:1974-09-01 00:00:00
abstract::Exploring the fundamental mechanisms behind the low tumour uptake of labelled monoclonal antibodies (MoAbs) during in vivo immunotargeting, experiments were performed to estimate the in vivo value of the association constant (Ka) in an experimental targeting reaction. An artificial tumour model was utilised, based on ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1992.219
更新日期:1992-07-01 00:00:00
abstract::Multiple primary tumours occurring in a three-year population-based series of patients with histopathologically peer-reviewed sarcomas from North West England were ascertained in order to look at the patterns of neoplasms seen. A total of 30 out of the 310 patients entered in the study had additional primary tumours. ...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1993.512
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Activated anaplastic lymphoma kinase (ALK) gene fusions are recurrent events in a small fraction of colorectal cancers (CRCs), although these events have not yet been exploited as in other malignancies. METHODS:We detected ALK protein expression by immunohistochemistry and gene rearrangements by fluorescenc...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2015.401
更新日期:2015-12-22 00:00:00
abstract:BACKGROUND:Epidemiological studies evaluating the association of vitamin B6, vitamin B12 and methionine with breast cancer risk have produced inconsistent results. METHODS:Pertinent studies were identified by a search in PubMed and Web of Knowledge. Random-effect model was used. Dose-response relationship was assessed...
journal_title:British journal of cancer
pub_type: 杂志文章,meta分析
doi:10.1038/bjc.2013.438
更新日期:2013-10-01 00:00:00
abstract::The novel compound 7(-)[4'-(2-nitroimidazol-l-yl)-butyl]-theophylline (NITP) can be used as an immunologically detectable probe for hypoxic cells. Because of the limited water solubility of NITP, it has been administered dissolved in peanut oil with 10% dimethylsulphoxide (DMSO). A new aqueous formulation has been dev...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1995.530
更新日期:1995-12-01 00:00:00
abstract::A cell-free plasmid reactivation assay was used to determine the fidelity of DNA double-strand break (DSB) repair in a panel of eight DSB repair-proficient human tumour cell lines. Nuclear protein extracts derived from radiosensitive tumour cells were less capable of correctly rejoining EcoRI-induced DSBs than were si...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1997.576
更新日期:1997-01-01 00:00:00
abstract::Small-cell lung cancers (SCLCs) initially respond to chemotherapy, but are often resistant at recurrence. The non-steroidal anti-inflammatory drug indomethacin is an inhibitor of multidrug resistance protein 1 (MRP1) function. The doxorubicin-resistant MRP1-overexpressing human SCLC cell line GLC(4)-Adr was highly sen...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6604010
更新日期:2007-10-22 00:00:00
abstract::When purified fibre and hexon proteins of adenovirus 12 were given intramuscularly to 4-week-old BALB/c mice (250-300 mug/mouse) 2 h prior to inoculation with mouse sarcoma virus (0.05 ml of 10(4) FFU/ml) at the same site, significant suppression of tumour growth (P less than 0.001), and rapid regression in tumour siz...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1976.63
更新日期:1976-04-01 00:00:00
abstract::One hundred and eighteen doctors who treat pulmonary neoplasms in Ontario were asked how they would wish to be treated if they had non-small cell lung cancer. Four different scenarios were given. The physicians were then asked if they would consent to take part as subjects in one or more clinical trials for which they...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1986.224
更新日期:1986-10-01 00:00:00
abstract::Male inbred Fischer rats were fed phenobarbitone-Na at a level of 500 parts/10(6) in the diet for 1 week, followed by 1000 parts 10(6) for 103 weeks at which time the survivors were killed. Thirty-three treated rats survived to 80 weeks. Before 80 weeks, no animals showed hyperplastic lesions. Of the 33 rats surviving...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1978.62
更新日期:1978-03-01 00:00:00
abstract::The conventional diffusion chamber (CDC) as described by Benestad (1970) had been modified to assay the colony forming capacity of RFM bone marrow and spleen cells in agar diffusion chambers (ADCs). The colonies are morphologically identical to those formed by the CFUc in agar culture in vitro and have an incidence of...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.1974.216
更新日期:1974-11-01 00:00:00
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 tumo...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/bjc.2013.143
更新日期:2013-05-28 00:00:00
abstract::Vascular endothelial growth factor (VEGF) is recognized to play a predominant role in breast cancer prognosis. The action of VEGF is mediated by two high-affinity receptors with ligand-stimulated tyrosine kinase activity: VEGFR-1/flt-1 and VEGFR-2/flk-1, which are expressed mainly in vascular endothelial cells. To the...
journal_title:British journal of cancer
pub_type: 杂志文章
doi:10.1038/sj.bjc.6692206
更新日期:1999-12-01 00:00:00