Both mutation and amplification of epidermal growth factor receptor (EGFR) in lung cancers have been reported in association with clinical responses to tyrosine kinase inhibitors. We have reported evidence implicating mutation specifically in the "terminal respiratory unit" type of adenocarcinoma, which is characterized by expression of thyroid transcription factor 1, a lineage marker of periph...

Steroidogenic factor-I (SF-I, NR5A1) is an orphan nuclear receptor that regulates the transcription of multiple target genes involved in steroidogenesis, reproduction and male sexual differentiation. Unlike most nuclear receptors, SF-I binds to the response elements of these genes as a monomer and recognizes variations on the extended half site, PyCA AGGTCA. Recently, we described a heterozygou...

cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...

N'-ethyl-N'-nitrosourea (ENU) is a powerful germline mutagen used in conjunction with phenotype-driven screens to generate novel mouse mutants. ENU also induces genetic lesions in somatic cells and dosage requires optimization between maximum germline mutation rate versus induced sterility and tumourigenesis that compromise the welfare and fecundity of the ENU-treated males. Here, we present ou...

N0-ethyl-N0-nitrosourea (ENU) is a powerful germline mutagen used in conjunction with phenotype-driven screens to generate novel mouse mutants. ENU also induces genetic lesions in somatic cells and dosage requires optimization between maximum germline mutation rate versus induced sterility and tumourigenesis that compromise the welfare and fecundity of the ENUtreated males. Here, we present our...

At present there is much discussion on the relation of carcinogenesis to mutation. There are several puzzling problems to be considered, differing somewhat between cancers of spontaneous origin and those induced by some sort of treatment. The hereditary influence in the origin of spontaneous neoplasms has been repeatedly demonstrated, though there are many cases lacking such evidence. Here is a...

Epidemiologic results tend to suggest that adults with Down syndrome have a reduced incidence of cancer, but some studies have reached the opposite conclusion. In this study, we offer direct biological evidence in support of the notion that Down syndrome reduces incidence of multiple types of cancer. Previous studies showed that introduction of the Apc mutation into the Ts65Dn mouse model of Do...