Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes

Article Abstract:

A haplotype-based approach is used to investigate the association of specific genomic regions of the phosphate and tensin homolog deleted on chromosome 10 (PTEN) locus with PTEN hamartoma tumor syndrome (PHTS) for identifying the mutations among individuals with classic diagnostic features. It is suggested that associated chromosomal segments likely harbor variants, potentially involved in the transcriptional regulation of PTEN, which are both pathogenic and manifest as low-penetrance disease susceptibility alleles.

Gene mutations, Gene mutation, Genetic aspects, Genetic regulation, Chromosome abnormalities

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Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation

Article Abstract:

An examination of the downstream effect of five PTEN (phosphate and tensin homolog deleted on chromosome 10) promoter variants that are not within any known cis-acting regulatory elements was carried out. Result show variants causing large mRNA secondary structure alterations result in an inhibition of protein translation and a decrease in PTEN protein expression.

United States, Protein binding, Messenger RNA

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Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome

Article Abstract:

Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) which are autosomal dominant hamartoma syndromes is presented. It is explained that the germline PTEN mutations is associated with 85% of the CS cases and 65% of BRRS cases and also with other disorders, which are collectively referred to as the 'PTEN hamartoma tumor syndrome.'

Ohio, Health aspects, Diagnosis, Tumor suppressor genes, Hamartoma, Tumour suppressor genes, Clinical report

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