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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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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.'
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
User Contributions:
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