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Titolo:
Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach
Autore:
Fidalgo, P; Almeida, MR; West, S; Gaspar, C; Maia, L; Wijnen, J; Albuquerque, C; Curtis, A; Cravo, M; Fodde, R; Leitao, CN; Burn, J;
Indirizzi:
Univ Newcastle Upon Tyne, No Genet Serv, Newcastle Upon Tyne NE2 4AA, Tyne& Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE2 4AA Univ Newcastle Upon Tyne, Sch Biochem & Genet, Newcastle Upon Tyne NE2 4AA, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne &Wear England NE2 4AA Inst Porugues Oncol, Dept Gastroenterol, Lisbon, Portugal Inst Porugues Oncol Lisbon Portugal ept Gastroenterol, Lisbon, Portugal Leiden State Univ, Inst Human Genet, Leiden, Netherlands Leiden State Univ Leiden Netherlands t Human Genet, Leiden, Netherlands
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 8, anno: 2000,
pagine: 49 - 53
SICI:
1018-4813(200001)8:1<49:DOMIMR>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONPOLYPOSIS COLON-CANCER; TRANSLATION-TERMINATING MUTATIONS; GRADIENT GEL-ELECTROPHORESIS; PROTEIN TRUNCATION TEST; HMLH1 GENES; MICROSATELLITE INSTABILITY; ADENOMATOUS POLYPOSIS; GERMLINE MUTATIONS; AMSTERDAM CRITERIA; RAPID DETECTION;
Keywords:
mutation detection; hereditary non-polyposis colorectal cancer; single strand conformation polymorphism; heteroduplex analysis; denaturing gradient gel electrophoresis; protein truncation test;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: West, S Univ Newcastle Upon Tyne, No Genet Serv, 19-20 Claremont Pl, Newcastle Upon Tyne NE2 4AA, Tyne & Wear, England Univ Newcastle Upon Tyne 19-20Claremont Pl Newcastle Upon Tyne Tyne & Wear England NE2 4AA
Citazione:
P. Fidalgo et al., "Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach", EUR J HUM G, 8(1), 2000, pp. 49-53

Abstract

Mutation searching was performed in the hMSH2 and hMLH1 genes in 20 Portuguese families representing 124 registered affected individuals. Of the 20, 16 fulfilled the classic 'Amsterdam' criteria for HNPCC, whereas the remaining four families satisfied a modified set of criteria. These criteria required a CRC diagnosed before age 50years and cancers diagnosed in two other relatives within the HNPCC spectrum. A multi-method approach was performed using the protein truncation test (PTT), single strand conformation polymorphism (SSCP) with two different sets of conditions, heteroduplex analysis (HA) and denaturing gradient gel electrophoresis (DGGE). Putative phenotype-genotype correlations were also explored. Ten different germline mutations were identified. Six of these were found in hMLH1 in seven families and four in hMSH2 in four families. SSCP and DGGE had the highest diagnostic yields with the percentage of variants detected above 67% and together HA and PTT had the lowest. No single technique detected all variants. Trends for theabsence of extracolonic manifestations were observed in families carrying hMLH1 germline mutations (four of seven in hMLH1 vs one of four in hMSH2). Most of the families with rectal cancer were associated with hMLH1 (six of seven in hMLH1 vs two of four in hMSH2). A multi-technique approach is necessary to identify a high percentage of germline mutations. Seven novel mutations were found in this Portuguese population.

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Documento generato il 24/11/20 alle ore 14:16:38