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Titolo:
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Autore:
Marsh, DJ; Kum, JB; Lunetta, KL; Bennett, MJ; Gorlin, RJ; Ahmed, SF; Bodurtha, J; Crowe, C; Curtis, MA; Dasouki, M; Dunn, T; Feit, H; Geraghty, MT; Graham, JM; Hodgson, SV; Hunter, A; Korf, BR; Manchester, D; Miesfeldt, S; Murday, VA; Nathanson, KL; Parisi, M; Pober, B; Romano, C; Tolmie, JL; Trembath, R; Winter, RM; Zackai, EH; Zori, RT; Weng, LP; Dahia, PLM; Eng, C;
Indirizzi:
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, Ctr Comprehens Canc, Human Canc Genet Program, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 net Program, Columbus, OH 43210 USA Harvard Univ, Sch Med, Dana Farber Canc Inst, Charles A Dana Human Canc Genet Unit, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 an Canc Genet Unit, Boston, MA 02115 USA Harvard Univ, Sch Publ Hlth, Dana Farber Canc Inst, Dept Biostat Sci, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 , Dept Biostat Sci, Boston, MA 02115 USA Univ Texas, SW Med Ctr, Dept Pathol & Pediat, Dallas, TX 75235 USA Univ Texas Dallas TX USA 75235 Dept Pathol & Pediat, Dallas, TX 75235 USA Univ Minnesota, Dept Oral Pathol, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 Pathol, Minneapolis, MN 55455 USA Univ Minnesota, Dept Med Genet, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 Genet, Minneapolis, MN 55455 USA Univ Cambridge, Sch Clin, Dept Paediat, Cambridge CB2 2QQ, England Univ Cambridge Cambridge England CB2 2QQ iat, Cambridge CB2 2QQ, England Childrens Hosp, Richmond, VA 23220 USA Childrens Hosp Richmond VA USA 23220 ildrens Hosp, Richmond, VA 23220 USA Metrohlth Med Ctr, Dept Pediat, Cleveland, OH 44109 USA Metrohlth Med CtrCleveland OH USA 44109 Pediat, Cleveland, OH 44109 USA Arkansas Childrens Hosp, Clin Genet Program, Little Rock, AR 72202 USA Arkansas Childrens Hosp Little Rock AR USA 72202 ittle Rock, AR 72202 USA Vanderbilt Univ, Med Ctr, Div Genet, Nashville, TN 37232 USA Vanderbilt Univ Nashville TN USA 37232 Div Genet, Nashville, TN 37232 USA Mt Sinai Med Ctr, New York, NY 10029 USA Mt Sinai Med Ctr New York NY USA10029 ai Med Ctr, New York, NY 10029 USA Henry Ford Hosp, Dept Med Genet, Detroit, MI 48202 USA Henry Ford Hosp Detroit MI USA 48202 ept Med Genet, Detroit, MI 48202 USA Johns Hopkins Univ, Sch Med, Dept Med Genet, Baltimore, MD 21287 USA JohnsHopkins Univ Baltimore MD USA 21287 Genet, Baltimore, MD 21287 USA Cedars Sinai Med Ctr, Clin Genet & Dysmorphol Serv, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr Los Angeles CA USA 90048 , Los Angeles, CA 90048 USA United Med & Dent Sch Guys & St Thomas Hosp, St Thomas Hosp, London SE1 7EH, England United Med & Dent Sch Guys & St Thomas Hosp London England SE17EH gland United Med & Dent Sch Guys & St Thomas Hosp, Kings Hosp, London SE1 7EH, England United Med & Dent Sch Guys & St Thomas Hosp London England SE1 7EHgland Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario Ottawa ON Canada K1H 8L1 N K1H 8L1, Canada Childrens Hosp, Boston, MA 02114 USA Childrens Hosp Boston MA USA 02114Childrens Hosp, Boston, MA 02114 USA Univ Colorado, Sch Med, Clin Genet Serv, Denver, CO USA Univ Colorado Denver CO USA do, Sch Med, Clin Genet Serv, Denver, CO USA Univ Virginia, Sch Med, Canc Genet Program, Richmond, VA USA Univ Virginia Richmond VA USA Med, Canc Genet Program, Richmond, VA USA St George Hosp, Sch Med, London SW17 0RE, England St George Hosp London England SW17 0RE Sch Med, London SW17 0RE, England Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Med Genet, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 Med Genet, Philadelphia, PA 19104 USA Childrens Hosp & Reg Med Ctr, Div Med Genet, Seattle, WA 98105 USA Childrens Hosp & Reg Med Ctr Seattle WA USA 98105 , Seattle, WA 98105 USA Yale Univ, Sch Med, New Haven, CT USA Yale Univ New Haven CT USAYale Univ, Sch Med, New Haven, CT USA Oasi Inst, Dept Paediat & Genet Counseling Serv, Troina, Italy Oasi Inst Troina Italy t Paediat & Genet Counseling Serv, Troina, Italy Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland Duncan Guthrie Inst Med Genet Glasgow Lanark Scotland G3 8SJ rk, Scotland Univ Leicester, Sch Med, Leicester, Leics, England Univ Leicester Leicester Leics England ch Med, Leicester, Leics, England Great Ormond St Hosp Children NHS Trust, London WC1N 1EH, England Great Ormond St Hosp Children NHS Trust London England WC1N 1EH England Inst Child Hlth, London WC1N 1EH, England Inst Child Hlth London EnglandWC1N 1EH d Hlth, London WC1N 1EH, England Univ Florida, Gainesville, FL USA Univ Florida Gainesville FL USAUniv Florida, Gainesville, FL USA Univ Cambridge, Canc Res Campaign, Human Canc Genet Res Grp, Cambridge CB22QQ, England Univ Cambridge Cambridge England CB2 2QQ Grp, Cambridge CB22QQ, England
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 8, volume: 8, anno: 1999,
pagine: 1461 - 1472
SICI:
0964-6906(199908)8:8<1461:PMSAGC>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
LHERMITTE-DUCLOS DISEASE; ENDOCRINE NEOPLASIA TYPE-2; TUMOR-SUPPRESSOR GENE; PHOSPHATASE-ACTIVITY; GERMLINE MUTATIONS; JUVENILE POLYPOSIS; PROSTATE-CANCER; PTEN/MMAC1; DELETION; BREAST;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Eng, C Ohio State Univ, Ctr Comprehens Canc, Clin Canc Genet Program, 690CMed Res Facil,420 W 12th Ave, Columbus, OH 43210 USA Ohio State Univ 690C Med Res Facil,420 W 12th Ave Columbus OH USA 43210
Citazione:
D.J. Marsh et al., "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome", HUM MOL GEN, 8(8), 1999, pp. 1461-1472

Abstract

Germline mutations in the tumour suppressor gene PTEN have been implicatedin two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol3-kinase pathway. CS is characterized by multiple hamartomas and an increased risk of benign and malignant disease of the breast, thyroid and centralnervous system, whilst the presence of cancer has not been formally documented in ERR. The partial clinical overlap in these two syndromes is exemplified by the hallmark features of ERR: macrocephaly and multiple lipomas, the latter of which occur in a minority of individuals with CS. Additional features observed in ERR, which may also occur in a minority of CS patients, include Hashimoto's thyroiditis, vascular malformations and mental retardation. Pigmented macules of the glans penis, delayed motor development and neonatal or infant onset are noted only in ERR. In this study, constitutive DNA samples from 43 ERR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and ERR, were screened for PTEN mutations. Mutations were identified in 26 of 43 (60%) ERR cases. Genotype-phenotype analyses within the ERR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, ERR or BRR/CS overlap family (P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family (P = 0.024). Additionally, the presence of lipomas was correlated with the presence of PTEN mutation in ERR patients (P = 0.028). In contrast to a prior report, no significant difference in mutation status was found in familial versus sporadic cases of ERR (P= 0.113). Comparisons between ERR and a previously studied group of 37 CS families suggested an increased likelihood of identifying a germline PTEN mutation in families with either CS alone or both CS and ERR when compared with ERR alone (P = 0.002). Among CS, ERR and BRR/CS overlap families that are PTEN mutation positive, the mutation spectra appear similar. Thus, PTEN mutation-positive CS and ERR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance.

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Documento generato il 28/11/20 alle ore 21:37:06