Browsing Genetics and Epidemiology by issue date
Now showing items 21-40 of 528
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RNA editing of human microRNAs
(2006)BACKGROUND: MicroRNAs (miRNAs) are short RNAs of around 22 nucleotides that regulate gene expression. The primary transcripts of miRNAs contain double-stranded RNA and are therefore potential substrates for adenosine to ... -
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults
(2006-01)Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults The protein kinase gene family is the most frequently mutated in human cancer. Previous work has documented ... -
A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy
(2006-04)A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy Malignant gliomas have a very poor prognosis. The current standard of care for these cancers consists ... -
BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
(2006-05)BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer. This study evaluated ... -
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
(2006-06)Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk ... -
Recurrent KRAS Codon 146 mutations in human colorectal cancer
(2006-08)Recurrent KRAS Codon 146 mutations in human colorectal cancer An activating point mutation in codon 12 of the HRAS gene was the first somatic point mutation identified in a human cancer and established the role of somatic ... -
Statistical analysis of pathogenicity of somatic mutations in cancer
(2006-08)Statistical analysis of pathogenicity of somatic mutations in cancer Recent large-scale sequencing studies have revealed that cancer genomes contain variable numbers of somatic point mutations distributed across many genes. ... -
The management of lobular carcinoma in situ (LCIS). Is LCIS the same as ductal carcinoma in situ (DCIS)?
(2006-09)Lobular carcinoma in situ was first described over 60 years ago. Despite the long history, it continues to pose significant difficulties in screening, diagnosis, management and treatment. This is partly due its multi-focal ... -
Guilt, blame and responsibility: men's understanding of their role in the transmission of BRCA1/2 mutations within their family.
(2006-11)Men and women who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. The sons and daughters of mutation ... -
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set
(2006-11)The panel of 60 human cancer cell lines (the NCI-60) assembled by the National Cancer Institute for anticancer drug discovery is a widely used resource. The NCI-60 has been characterized pharmacologically and at the molecular ... -
Susceptibility alleles for testicular germ cell tumour: a review
(2007-08)Family history is among the strongest and most consistent of the risk factors for testicular germ cell tumour (TGCT). Brothers of affected cases have an 8- to10-fold relative risk and fathers/sons have a risk between four ... -
Do all patients with bilateral testis cancer have a hereditary predisposition?
(Wiley/Blackwell (10.1111), 2007-08-09)Summary An international study has demonstrated that patients with bilateral testicular cancer are significantly more likely to have brothers with testis cancer than those with unilateral disease. This, together with other ... -
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
(2007-09)Nonsense- mediated mRNA decay ( NMD) is of universal biological significance(1-3). It has emerged as an important global RNA, DNA and translation regulatory pathway(4). By systematically sequencing 737 genes ( annotated ... -
Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution
(2007-09)For decades, cytogenetic studies have demonstrated that somatically acquired structural rearrangements of the genome are a common feature of most classes of human cancer. However, the characteristics of these rearrangements ... -
Feedback circuit among INK4 tumor suppressors constrains human glioblastoma development
(2008-04)We have developed a nonheuristic genome topography scan (GTS) algorithm to characterize the patterns of genomic alterations in human glioblastoma (GBM), identifying frequent p18(INK4C) and p16(INK4A) codeletion. Functional ... -
Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing
(2008-09)During the clonal expansion of cancer from an ancestral cell with an initiating oncogenic mutation to symptomatic neoplasm, the occurrence of somatic mutations (both driver and passenger) can be used to track the on-going ... -
The cancer genome
(2009-04)All cancers arise as a result of changes that have occurred in the DNA sequence of the genomes of cancer cells. Over the past quarter of a century much has been learnt about these mutations and the abnormal genes that ... -
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
(2009-05)Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core histones. Here, we describe inactivating somatic mutations in the histone ... -
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
(2009-05)Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons ... -
Genome-wide association study identifies five susceptibility loci for glioma.
(2009-08)To identify risk variants for glioma, we conducted a meta-analysis of two genome-wide association studies by genotyping 550K tagging SNPs in a total of 1,878 cases and 3,670 controls, with validation in three additional ...
