Microarray technologies have both fascinated and frustrated the toxicological community since their introduction around a decade ago. Fascination arose from the possibility offered by the technology to gain a profound insight into the cellular response to chemically mediated stress, and the potential that this genomic signature would be indicative of the biological mechanism by which that stres...

DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; however, their low frequencies prevented formal association testing. We present here the association be...

Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements. For the first time, we propose a new approach, called ‘‘quantitative PCR (qPCR) high-resolution melting (HRM) curve analysis (qPCR-HRM),’’ which combines qPCR and HRM to obtain a rap...

Juvenile-onset recurrent respiratory papillomatosis (RRP) is associated with low risk human papillomavirus (HPV) types 6 and 11. Malignant transformation has been reported solely for HPV11-associated RRP in 2-4% of all RRP-cases, but not for HPV6. The molecular mechanisms in the carcinogenesis of low risk HPV-associated cancers are to date unknown. We report of a female patient, who presented w...

BACKGROUND Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for dete...

When a cancer patient develops a new tumor it is necessary to determine if this is a recurrence (metastasis) of the original cancer, or an entirely new occurrence of the disease. This is accomplished by assessing the histo-pathology of the lesions, and it is frequently relatively straightforward. However, there are many clinical scenarios in which this pathological diagnosis is difficult. Since...

DNA copy number alterations are a hallmark of cancer. Understanding their role in tumor progression can help improve diagnosis, prognosis and therapy selection for cancer patients and can contribute to the development of personalised therapies. High-resolution, genome-wide measurements of DNA copy number changes for large cohorts of tumors are currently available, owing to the rapid development...

s of the 1 MC-GARD Meeting, 3–5 May 2007: Thursday 3 May 104 identified a set of genes that lie on genomic regions that are commonly amplified or deleted in both murine and human Brca1 or Brca2 tumors. We are currently investigating which of these genes could be driving the selection of these different amplicons or deletions. O2 09.45 – 10.00 COMPREHENSIVE CHARACTERIZATION OF GENOMIC ABERRATION...

Oral presentation Homozygous deletions are often seen in cancer as a means of inactivating tumour suppressor genes. However, such deletions can also result from genome instability and as such probably represent passenger events that do not contribute to carcinogenesis. These passenger deletions are often associated with known regions of genomic fragility (fragile sites). We have analysed approx...