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Titolo:
Germline and germline mosaic PTEN mutations associated with a Proteus-likesyndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis
Autore:
Zhou, XP; Marsh, DJ; Hampel, H; Mulliken, JB; Gimm, O; Eng, C;
Indirizzi:
Ohio State Univ, Human Canc Genet Program, Ctr Comprehens Canc, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 rehens Canc, Columbus, OH 43210 USA Ohio State Univ, Clin Canc Genet Program, Ctr Comprehens Canc, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 rehens Canc, Columbus, OH 43210 USA Harvard Univ, Sch Med, Dana Farber Canc Inst, Boston, MA 02115 USA HarvardUniv Boston MA USA 02115 a Farber Canc Inst, Boston, MA 02115 USA Harvard Univ, Childrens Hosp, Sch Med, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 rens Hosp, Sch Med, Boston, MA 02115 USA Univ Cambridge, CRC, Human Canc Genet Res Grp, Cambridge CB2 2QQ, England Univ Cambridge Cambridge England CB2 2QQ Grp, Cambridge CB2 2QQ, England
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 5, volume: 9, anno: 2000,
pagine: 765 - 768
SICI:
0964-6906(20000322)9:5<765:GAGMPM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
BANNAYAN-ZONANA-SYNDROME; JUVENILE POLYPOSIS; COWDEN-DISEASE; ENDOCRINE NEOPLASIA; GENE; DELETION; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Eng, C Ohio State Univ, Human Canc Genet Program, Ctr Comprehens Canc, 420W 12thAve,Room 690C MRF, Columbus, OH 43210 USA Ohio State Univ 420 W 12thAve,Room 690C MRF Columbus OH USA 43210
Citazione:
X.P. Zhou et al., "Germline and germline mosaic PTEN mutations associated with a Proteus-likesyndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis", HUM MOL GEN, 9(5), 2000, pp. 765-768

Abstract

Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two harmatoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in awide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and ERR share some features, such as hamartomas and lipomatosis, To determine whether othersyndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or ERR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA fromat least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X, Both mutations have been described in CS and ERR. Wepostulate that the second hit. R130X, occurred early in embryonic development ana may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in thefuture.

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Documento generato il 25/11/20 alle ore 18:45:23