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Computational Analysis of Novel BRCA1 and BRCA2 Genes Unclassified Sequence Variants Found in Healthy Females in Croatia (CROSBI ID 564840)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Ozretić, Petar ; Musani, Vesna ; Sabol, Maja ; Car, Diana ; Levanat, Sonja Computational Analysis of Novel BRCA1 and BRCA2 Genes Unclassified Sequence Variants Found in Healthy Females in Croatia // The FEBS journal / Perham, Richard (ur.). 2010. str. 18-18

Podaci o odgovornosti

Ozretić, Petar ; Musani, Vesna ; Sabol, Maja ; Car, Diana ; Levanat, Sonja

engleski

Computational Analysis of Novel BRCA1 and BRCA2 Genes Unclassified Sequence Variants Found in Healthy Females in Croatia

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.

BRCA1 ; BRCA2 ; in silico ; UVs ; mutations ; polymorphisms ; Croatia

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Podaci o prilogu

18-18.

2010.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

The FEBS journal

Perham, Richard

Oxford: Wiley-Blackwell

1742-464X

1742-4658

Podaci o skupu

The 35th FEBS Congress

poster

26.06.2010-01.07.2010

Göteborg, Švedska

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost