Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F08%3A00027621" target="_blank" >RIV/00216224:14310/08:00027621 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques

Original language description

The Large genomic rearrangements (LGR) in BRCA1/2 represent a substantial proportion of disease-causing changes. In our pilot study we demonstrate the specific case of the Slovak breast/ovarian cancer family, where BRCA1 analysis revealed the discrepancyof SNPs haplotypes and primarily indicated the presence of LGR. Initially, the analysis of all exons of BRCA1 was based on the combination of SSCP and sequencing techniques. After the abnormal SNPs haplotypes identification, MLPA analysis was performed.The results were finally proved with array-comparative genomic hybridization (array-CGH). The hemizygous status of 9 SNPs identificated in BRCA1 indicated a possible occurrence of LGR. The MLPA results showed reduction of peaks levels for each BRCA1 exon. Array-CGH method displays a single deletion signal for BRCA1 gene among set of 287 gene probes. Totally, 8 members of the family where analysed, in 3 of them the deletion was confirmed. Two of the LGR carriers suffered with unilateral

Czech name

Identifikace vzácné kompletní delece BRCA1 genu využitím kombinace SNP haplotypové analýzy, MLPA a array-CGH technik

Czech description

V naší pilotní studii poukazujeme na specifický případ slovenské rodiny s rakovinou prsu/vaječníku, kdy analýza BRCA1 genu ukázala rozdíly v SNP haplotypech a vedla tak k odhalení vzácné delece celého genu BRCA1.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2008

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Breast Cancer Res

ISSN

1465-5411

e-ISSN

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Volume of the periodical

109

Issue of the periodical within the volume

3

Country of publishing house

GB - UNITED KINGDOM

Number of pages

3

Pages from-to

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UT code for WoS article

000255851900019

EID of the result in the Scopus database

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