PIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes.
نویسنده
چکیده
1. Yuan TL, Cantley LC. PI3K pathway alterations in cancer: variations on a theme. Oncogene 2008: 27: 5497–5510. 2. Lindhurst MJ, Sapp JC, Teer JK et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011: 365: 611–619. 3. Kurek KC, Luks VL, Ayturk UM et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012: 90: 1108–1115. 4. Samuels Y, Wang Z, Bardelli A et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004: 304: 554.
منابع مشابه
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequen...
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BACKGROUND PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, e...
متن کاملVenous malformations: PIK3CA mutations guide new treatments
The Phosphoinositide 3-Kinase (PI3K) pathway has been extensively studied in tumors due its roles in promoting cellular growth and proliferation [1]. The most common PI3K mutations are in the PIK3CA gene encoding the p110α catalytic subunit, including the " hotspot " activating mutations E545K and H1047R that can lead to constitutive signaling of the pathway [1]. Consequently, activation of the...
متن کاملSomatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic scre...
متن کاملUnilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disor... - PubMed - NCBI
A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, conf...
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ورودعنوان ژورنال:
- Clinical genetics
دوره 82 6 شماره
صفحات -
تاریخ انتشار 2012