Browsing Genetics and Epidemiology by issue date
Now showing items 1-20 of 572
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A paradox: urgent BRCA genetic testing.
(Springer Science and Business Media LLC, 2001-01-01)Diagnostic or predictive testing for germline mutations in cancer predisposition genes is inherently slow as result of both genetic counselling and mutation analysis. The overall time taken for mutation testing is not ... -
Cancer and genomics
(2001-02)Cancer and genomics. Identification of the genes that cause oncogenesis is a central aim of cancer research. We searched the proteins predicted from the draft human genome sequence for paralogues of known tumour suppressor ... -
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study.
(WILEY, 2001-03-01)Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations ... -
Mortality and cancer incidence in persons with Down's syndrome, their parents and siblings.
(CAMBRIDGE UNIV PRESS, 2001-03-01)A cohort study of 1425 persons with Down's syndrome (DS), and of their parents (447 mothers, 435 fathers) and siblings (1176), was set up to investigate death rates from various causes and cancer incidence patterns. In ... -
Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic
(2001-04)Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. Purpose: Data from the Breast Cancer Linkage Consortium suggest that the proportion of familial breast and ovarian ... -
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
(CELL PRESS, 2001-07-01)The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form ... -
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
(WILEY, 2002-03-01)Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated ... -
The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS).
(APSIT ASSOC PROM STUD IMMUNOL TUMOR, 2002-09-01)The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS) is in progress. The study design, accrual to date, and related research projects are described. Revised accrual rates ... -
Localisation of susceptibility genes for familial testicular germ cell tumour
(2003-01)Localisation of susceptibility genes for familial testicular germ cell tumour. Approximately 1700 men in the United Kingdom develop testicular germ cell tumours (TGCT) per year. Among the known risk factors a family history ... -
Genetic predisposition to testicular germ-cell tumours.
(2004-06)Genetic predisposition to testicular germ-cell tumours Testicular germ-cell tumours (TGCT) are the most common neoplasm in young men. Various studies have suggested the existence of an inherited predisposition to development ... -
Rates of prostate-specific antigen testing in general practice in England and Wales in asymptomatic and symptomatic patients: a cross-sectional study
(BLACKWELL PUBLISHING LTD, 2004-07-01)Objective To assess the rate of prostate-specific antigen (PSA) testing for prostate cancer in general practice in asymptomatic and symptomatic patients. Subjects and Methods The cross-sectional study took place in England ... -
Intragenic ERBB2 kinase mutations in tumours
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A survey of RNA editing in human brain
(2004-12)A survey of RNA editing in human brain We have conducted a survey of RNA editing in human brain by comparing sequences of clones from a human brain cDNA library to the reference human genome sequence and to genomic DNA ... -
Actin-myosin-based contraction is responsible for apoptotic nuclear disintegration.
(2005-01)Membrane blebbing during the apoptotic execution phase results from caspase-mediated cleavage and activation of ROCK I. Here, we show that ROCK activity, myosin light chain (MLC) phosphorylation, MLC ATPase activity, and ... -
A survey of homozygous deletions in human cancer genomes
(2005-03)A survey of homozygous deletions in human cancer genomes Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. ... -
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer
(2005-06)A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer We examined the coding sequence of 518 protein kinases, similar to 1.3 Mb of DNA per sample, in ... -
Somatic mutations of the protein kinase gene family in human lung cancer
(2005-09)Somatic mutations of the protein kinase gene family in human lung cancer Protein kinases are frequently mutated in human cancer and inhibitors of mutant protein kinases have proven to be effective anticancer drugs. We ... -
Familial gigantism caused by an NSD1 mutation.
(2005-11)A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. ... -
The predicted impact of coding single nucleotide polymorphisms database.
(AMER ASSOC CANCER RESEARCH, 2005-11-01)Nonsynonymous single nucleotide polymorphisms (nsSNP) have the potential to affect the structure or function of expressed proteins and are, therefore, likely to represent modifiers of inherited susceptibility. We have ...
