Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Objectives To test the hypothesis that somatic phosphatidylinositol-4, 5-bisphospate 3-
kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more …

Background The Proteus syndrome is characterized by the overgrowth of skin, connective
tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by …

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …

Background PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical
syndromes with germline mutations in the PTEN tumour suppressor gene, including …

Abstract The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer
Clinical Domain Working Group to assemble clinicians, researchers, and molecular …

Abstract Klippel–Trenaunay syndrome (KTS), originally described as a triad of cutaneous
capillary malformation, bone and soft‐tissue hypertrophy, as well as venous and lymphatic …

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and
can be life-threatening. Although molecularly targeted therapies can be life-saving …

Alterations in the tumor suppressor phosphatase and tensin homolog (PTEN) occur in a
substantial proportion of solid tumors. These events drive tumorigenesis and tumor …