Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome

Orloff, Mohammed S.; Eng, Charis

doi:10.1038/onc.2008.237

Cited by 122 publications

(81 citation statements)

References 89 publications

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“…Beide Syndrome sind mit Keimbahnmutationen des PTEN-Gens assoziiert und werden unter der Bezeichnung PTEN-Hamartom-Tumor-Syndrom (PHTS) zusammengefasst [390,391].…”

Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

147

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“…Beide Syndrome sind mit Keimbahnmutationen des PTEN-Gens assoziiert und werden unter der Bezeichnung PTEN-Hamartom-Tumor-Syndrom (PHTS) zusammengefasst [390,391].…”

Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

147

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“…The frequency of whole or partial deletions and duplications in patients sent for PTEN analysis with test indications of Bannayan-Riley-Ruvalcaba syndrome (BRRS), Cowden syndrome (CS), macrocephaly, and/or autism spectrum disorder was 0.5%, which is lower than the previously published rate seen in smaller cohorts of patients with normal results by sequencing. 7,8 Whole-gene deletions in PTEN were observed in three patients with BRRS, CS, or Sotos syndrome-like overgrowth. One patient with developmental delay and multiple lipomas had a partial gene deletion including exons 3-9, and two patients with suspected CS showed mosaicism for a partial deletion of exons 6-9 and a partial duplication of PTEN involving exons 1-5, respectively (Figure 2d).…”

Section: Autosomal Dominant Disordersmentioning

confidence: 99%

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Aradhya¹,

Lewis²,

Bonaga³

et al. 2012

Genetics in Medicine

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Purpose: Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian disorders is unknown. methods:We designed an array comparative genomic hybridization (CGH) test with probes in exonic regions of 589 genes. Targeted testing was performed for 219 genes in 3,018 patients. We demonstrate for the first time the utility of exon-level array CGH in a large clinical cohort by testing for 136 autosomal dominant, 53 autosomal recessive, and 30 X-linked disorders.Results: Overall, 98 deletions and two duplications were identified in 53 genes, corresponding to a detection rate of 3.3%. Approximately 40% of positive findings were deletions of only one or two exons. A high frequency of deletions was observed for several autosomal dominant disorders, with a detection rate of 2.9%. For autosomal recessive disorders, array CGH was usually performed after a single mutation was identified by sequencing. Among 138 individuals tested for recessive disorders, 10.1% had intragenic deletions. For X-linked disorders, 3.5% of 313 patients carried a deletion or duplication.conclusion: Our results demonstrate that exon-level array CGH provides a robust option for intragenic copy number analysis and should routinely supplement sequence analysis for Mendelian disorders. 2012:14(6):594-603 Genet Med

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“…Akt is a serine/ threonine kinase that is activated through the phosphatidylinositol (3,4,5)-phosphate (PIP3)-PI3K pathway, and activated or phosphorylated Akt can contribute to cell growth, proliferation, protection from proapoptotic stimuli and stimulation of neo-angiogenesis by regulating GSK3-b (Pap and Cooper, 1998), BAD (Datta et al, 1997), FOXO (Burgering and Kops, 2002) and mTOR (Hay, 2005). In normal cells, the tumor suppressor PTEN, a lipid phosphatase that removes phosphate from PIP3, inhibits Akt activation and allows cells to undergo apoptosis (Orloff and Eng, 2008). On the other hand, tumor cells harboring PTEN mutation or loss of PTEN expression cause Akt activation.…”

Section: Introductionmentioning

confidence: 99%