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Titolo:
Rapid mutation scanning of genes associated with familial cancer syndromesusing denaturing high-performance liquid chromatography
Autore:
Marsh, DJ; Theodosopoulos, G; Howell, V; Richardson, AL; Benn, DE; Proos, AL; Eng, C; Robinson, BG;
Indirizzi:
Royal N Shore Hosp, Kolling Inst Med Res, Lab & Community Genet, St Leonards, NSW 2065, Australia Royal N Shore Hosp St Leonards NSW Australia 2065 ds, NSW 2065, Australia Univ Sydney, Dept Med, Sydney, NSW 2006, Australia Univ Sydney Sydney NSWAustralia 2006 pt Med, Sydney, NSW 2006, Australia Ohio State Univ, Clin Canc Genet & Human Canc Genet Program, Ctr Comprehens Canc, Columbus, OH 43201 USA Ohio State Univ Columbus OH USA 43201 rehens Canc, Columbus, OH 43201 USA Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43201 USA Ohio State Univ Columbus OH USA 43201 Human Genet, Columbus, OH 43201 USA Univ Cambridge, CRC, Human Canc Genet Res Grp, Cambridge CB2 1TN, England Univ Cambridge Cambridge England CB2 1TN Grp, Cambridge CB2 1TN, England
Titolo Testata:
NEOPLASIA
fascicolo: 3, volume: 3, anno: 2001,
pagine: 236 - 244
SICI:
1522-8002(200105/06)3:3<236:RMSOGA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; HIPPEL-LINDAU-DISEASE; MEDULLARY-THYROID CARCINOMA; BANNAYAN-ZONANA-SYNDROME; GERMLINE MUTATIONS; RET PROTOONCOGENE; COWDEN-DISEASE; ENDOCRINE NEOPLASIA; PTEN/MMAC1 GENE; PTEN MUTATION;
Keywords:
dHPLC; mutation detection; PTEN; RET; VHL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Marsh, DJ Royal N Shore Hosp, Kolling Inst Med Res, Lab & Community Genet,St Leonards, NSW 2065, Australia Royal N Shore Hosp St Leonards NSW Australia 2065 65, Australia
Citazione:
D.J. Marsh et al., "Rapid mutation scanning of genes associated with familial cancer syndromesusing denaturing high-performance liquid chromatography", NEOPLASIA, 3(3), 2001, pp. 236-244

Abstract

Germline mutations in tumor suppressor genes, or less frequently oncogenes, have been identified in up to 19 familial cancer syndromes including Li-Fraumeni syndrome, familial paraganglioma, familial adenomatous polyposis coli and breast and ovarian cancers. Multiple genes have been associated withsome syndromes as approximately 26 genes have been linked to the development of these familial cancers. With this increased knowledge of the molecular determinants of familial cancer comes an equal expectation for efficient genetic screening programs. We have trialled denaturing highperformance liquid chromatography (dHPLC) as a tool for rapid germline mutation Scanning of genes implicated in three familial cancer syndromes-Cowden syndrome (PTENmutation), multiple endocrine neoplasia type 2 (RET mutation) and von Hippel-Lindau disease (VHL mutation). Thirty-two mutations, including 21 in PTEN, 9 in RET plus a polymorphism, and 2 in VHL, were analyzed using the WAVEDNA fragment analysis system with 100% detection efficiency. In the case of the tumor suppressor gene PTEN, mutations were scattered along most of the gene. However, mutations in the RET proto-oncogene associated with multiple endocrine neoplasia type 2 were limited to specific clusters or "hotspots. " The use of GC-clamped primers to scan for mutations scattered along PTEN exons was shown to greatly enhance the sensitivity of detection of mutanthetero- and homoduplex peaks at a single denaturation temperature comparedto fragments generated using non-GC-clamped primers. Thus, when scanning tumor suppressor genes for germline mutation using dHPLC, the incorporation of appropriate GC-clamped primers will likely increase the efficiency of mutation detection.

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Documento generato il 04/12/20 alle ore 08:55:45