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Titolo:
Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas
Autore:
Gimm, O; Chi, HB; Dahia, PLM; Perren, A; Hinze, R; Komminoth, P; Dralle, H; Reynolds, PR; Eng, C;
Indirizzi:
Univ Cambridge, Human Canc Genet Res Grp, Canc Res Campaign, Cambridge CB22QQ, England Univ Cambridge Cambridge England CB2 2QQ aign, Cambridge CB22QQ, England Univ Halle Wittenberg, Dept Gen Surg, D-06097 Halle, Germany Univ Halle Wittenberg Halle Germany D-06097 Surg, D-06097 Halle, Germany Univ Halle Wittenberg, Inst Pathol, D-06097 Halle, Germany Univ Halle Wittenberg Halle Germany D-06097 thol, D-06097 Halle, Germany Univ Zurich, Dept Pathol, CH-8091 Zurich, Switzerland Univ Zurich ZurichSwitzerland CH-8091 thol, CH-8091 Zurich, Switzerland Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 st, Dept Canc Biol, Boston, MA 02115 USA Univ Rochester, Sch Med, Dept Orthoped, Rochester, NY 14642 USA Univ Rochester Rochester NY USA 14642 t Orthoped, Rochester, NY 14642 USA Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 Human Genet, Columbus, OH 43210 USA Ohio State Univ, Ctr Comprehens Canc, Clin Canc Genet Program, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 net Program, Columbus, OH 43210 USA 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
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 4, volume: 86, anno: 2001,
pagine: 1801 - 1805
SICI:
0021-972X(200104)86:4<1801:SMAGVO>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
INOSITOL POLYPHOSPHATE PHOSPHATASE; RILEY-RUVALCABA-SYNDROME; RET PROTOONCOGENE; COWDEN-SYNDROME; HIRSCHSPRUNG-DISEASE; OVER-REPRESENTATION; CODON-918 MUTATION; SEQUENCE VARIANTS; TUMORS; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Eng, C Ohio State Univ, Human Canc Genet Program, Ctr Comprehens Canc, 420W 12thAve,Room 690C TMRF, Columbus, OH 43210 USA Ohio State Univ 420 W 12th Ave,Room 690C TMRF Columbus OH USA 43210
Citazione:
O. Gimm et al., "Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas", J CLIN END, 86(4), 2001, pp. 1801-1805

Abstract

Various genes have been identified to play a role in the pathogenesis of follicular thyroid tumors. Cowden syndrome is the only known familial syndrome with an increased risk of both follicular thyroid adenoma (FA) and carcinoma (FTC). Germline mutations in the tumor suppressor gene PTEN, which encodes a dual-specificity phosphatase, have been found in up to 80% of patients with Cowden syndrome suggesting a role of PTEN in the pathogenesis of follicular thyroid tumors. Although somatic intragenic mutations in PTEN, which maps to 10q23.3, are rarely found in follicular tumors, loss of heterozygosity (LOH) of markers within 10q22-24 occurs in about 25%. Recently, another phosphatase gene, MINPP1, has been localized to 10q23.3. MINPP1 has theability to remove 3-phosphate from inositol phosphate substrates, a function that overlaps that of PTEN. Because of this overlapping function with PTEN and the physical location of MINPP1 to a region with frequent LOH in follicular thyroid tumors, we considered it to be an excellent candidate gene that could contribute to the pathogenesis of follicular thyroid tumors. We analyzed DNA from tumor and corresponding normal tissue from 23 patients with FA and 15 patients with FTC for LOH and mutations at the MINPP1 locus. LOH was identified in four malignant and three benign tumors. One of these FTCs with LOH was found to harbor a somatic c.122C > T or S41L mutation. We also found two germline sequence variants, c.809A > G (Q270R) and IVS3 + 34T > A. The c.809A > G variant was found in only one patient with FA but notin patients with FTC or normal controls. More interestingly, IVS3 + 34T > A was found in about 15% of FA cases and normal controls but not in patients with FTC. These results suggest a role for MINPP1 in the pathogenesis of at least a subset of malignant follicular thyroid tumors, and MINPP1 might act as a low penetrance predisposition allele for FTC.

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Documento generato il 19/09/20 alle ore 15:27:41