Naslov
Alterations of the Dpc4 tumor suppressor gene in sporadic colon carcinoma : identification of novel somatic mutation in tumor from Croatian patient
(Alterations of the Dpc4 tumor suppressor gene in sporadic colon carcinoma : identification of noval somatic mutation in tumor from Croatian patient)

Autori
Popović Hadžija, Marijana ; Kapitanović, Sanja ; Radošević, Senka ; Spaventi, Radan ; Hadžija, Mirko ; Pavelić, Krešimir

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Eur J Cancer / Moranr, R. - Sankt Gallen : Pergamon, 2002

Skup
2nd International conference and 7th annual meeting of the international society of cancer chemoprevention ISCaC

Mjesto i datum
St. Gallen, Švicarska, 14.02.2002. - 16.02.2002

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
DPC4; carcinoma; mutations

Sažetak
Dpc4 is functionally inactivated in about 10-20% of colorectal mutations. The role of DPC4 alterations in development and/or progression of colorectal tumors, we analyzed on 60 samples of Croatian patients. We investigated allelic losses and mutations in exons 8, 10 and 11. In this work we used polymerase chain reaction (PCR) as basic methods and variable nucleotide tandem re- peat (VNTR) analysis for three flanking markers (D18S474, D18S363, D18S46). LOH analysis was prepared on the acrylamide-Bis-acrylarnide gels with Spreadex polymer NAB, a novel gel matrix for DNA electrophoresis. In restriction fragment polymorphism (RFLP) analysis we used Mnll, Mael, and BspHI restriction site. Single strand conformation polymorphism (SSCP) was done onto GMA gels in denaturing conditions. Among 60 analyzed cases of colorectal cancers even 58% (97% ) were informative. LOH at any of three flanking markers was detected in 37 (64%) of informative tumor DNA's. Nine- teen cases of LOH found by D18S474 marker, 11 cases found by D18S363 marker, and 7 cases found by D18S46 marker, respectively. In RFLP analysis neither exarnined samples of colon carcinoma were positive for mutation in exon 8 and 10. Only one tumor had mutation in exon 11, and sequence analysis veri!ied new mutation -deletion of 20 bp (from 133-153 bp).. PCR-SSCP examination of 60 samples did not indicate other different types of SSCP variants. The malignant progression is a consequence more than one genetic change, and inactivation of DPC4 had a role 1n a multistep process of colon carcinoma progression.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita, Farmacija

POVEZANOST RADA