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Titolo:
GENETICS OF COWDEN-SYNDROME - THROUGH THE LOOKING-GLASS OF ONCOLOGY (REVIEW)
Autore:
ENG C;
Indirizzi:
HARVARD UNIV,SCH MED,DANA FARBER CANC RES INST,DEPT ADULT ONCOL,S&R SMITH LABS,TRANSLAT RES LABS BOSTON MA 02115 UNIV CAMBRIDGE,CANC RES CAMPAIGN,HUMAN CANC GENET RES GRP CAMBRIDGE CB2 2QQ ENGLAND
Titolo Testata:
International journal of oncology
fascicolo: 3, volume: 12, anno: 1998,
pagine: 701 - 710
SICI:
1019-6439(1998)12:3<701:GOC-TT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE HAMARTOMA SYNDROME; LHERMITTE-DUCLOS DISEASE; RILEY-RUVALCABA-SYNDROME; LOCALIZATION; FAMILY; ACTIN;
Keywords:
COWDEN; BANNAYAN-RUVALCABA-RILEY; PTEN; BREAST CANCER; THYROID CANCER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
52
Recensione:
Indirizzi per estratti:
Citazione:
C. Eng, "GENETICS OF COWDEN-SYNDROME - THROUGH THE LOOKING-GLASS OF ONCOLOGY (REVIEW)", International journal of oncology, 12(3), 1998, pp. 701-710

Abstract

Cowden syndrome (CS) is an autosomal dominant inherited syndrome characterised by hamartoma development in multiple organs and a risk of breast, thyroid and other cancers. The susceptibility gene for this syndrome was mapped to 10q22-23. Subsequently, germline mutations in PTEN,which encodes a dual specificity phosphatase, were found in individuals and families with CS. With the identification of the CS susceptibility gene, DNA-based predictive testing may be offered in theory. Somatic mutations in PTEN have been described in sporadic thyroid tumors, endometrial carcinomas, prostate carcinomas and glioblastoma multiforme. Although initial analyses suggest that the presence of somatic PTEN alterations appear to be associated with more advanced disease in carcinomas of the prostate and brain, this does not appear to be the case in epithelial thyroid tumors.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 08:19:18