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Pregled bibliografske jedinice broj: 476654

Zbornik radova

Autori: Ozretić, Petar; Musani, Vesna; Sabol, Maja; Car, Diana; Levanat, Sonja
Naslov: Computational Analysis of Novel BRCA1 and BRCA2 Genes Unclassified Sequence Variants Found in Healthy Females in Croatia
( Computational Analysis of Novel BRCA1 and BRCA2 Genes Unclassified Sequence Variants Found in Healthy Females in Croatia )
Izvornik: FEBS Journal / Perham, Richard (ur.). - Oxford : Wiley-Blackwell , 2010. 18-18.
ISSN: 1742-464X
Skup: 35th FEBS Congress
Mjesto i datum: Gothenburg, Kraljevina Švedska, 26.6.-1.07.2010.
Ključne riječi: BRCA1; BRCA2; in silico; UVs; mutations; polymorphisms; Croatia
( BRCA1; BRCA2; in silico; UVs; mutations; polymorphisms; Croatia )
Sažetak:
BRCA1 (breast cancer 1 gene) and BRCA2 (breast cancer 2 gene) are the major hereditary breast/ovarian cancer predisposing genes and their mutations increase the risk of developing cancer. Almost half of all BRCA1 and BRCA2 sequence variants found are unclassified variants (UVs) so their clinical significance is unknown or uncertain. That represents problem for risk assessment in genetic counseling. We have developed method for detection of inherited predisposition to breast/ovarian cancer and analyzed occurrence and distribution of BRCA1 and BRCA2 sequence variants on 220 healthy women in Croatia. The aim of this study was to identify UVs that may have deleterious effects on intronic or exonic splicing, protein structure and function, and protein functional domains using in silico methods. Using different computational tools, we have found that two nonsynonymous amino acid changes and one single amino acid deletion potentially have no impact on structure and function of BRCA2 protein. Two synonymous amino acid changes could have impact on splicing regulation by disrupting and creating exonic splicing enhancers. Our only intronic UV showed no potential impact on splicing, because nucleotide changing at that position likely makes no changes in consensus splice sites. All other exonic UVs do not lead to creation of potential cryptic splice sites. In silico methods present fast and cheap method for assessing preliminary clinical significance, especially in cases with low frequent and ethnic specific alleles, when it is difficult to make population based studies and when expensive in vitro functional assays must be performed to assess functional effect of found sequence variants.
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 098-0982464-2461
Izvorni jezik: eng
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
Upisao u CROSBI: pozretic@irb.hr (pozretic@irb.hr), 13. Srp. 2010. u 14:44 sati



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