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

J 2008

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

KONEČNÝ, Michal, Katarína ZÁVODNÁ, Vladimíra VRANOVÁ, Miriam VIZVARYOVÁ, Eva WEISMANOVÁ et. al.

Základní údaje

Originální název

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

Název česky

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

Autoři

KONEČNÝ, Michal (703 Slovensko), Katarína ZÁVODNÁ (703 Slovensko), Vladimíra VRANOVÁ (703 Slovensko), Miriam VIZVARYOVÁ (703 Slovensko), Eva WEISMANOVÁ (703 Slovensko), Iveta MĹKVA (703 Slovensko), Petr KUGLÍK (203 Česká republika, garant), Juraj KAUSITZ (703 Slovensko) a Zdena BARTOŠOVÁ (703 Slovensko)

Vydání

Breast Cancer Res, MIDDLESEX HOUSE, 34 CLEVELAND ST, LONDON, BIOMED CENTRAL LTD, 2008, 1465-5411

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 5.052

Kód RIV

RIV/00216224:14310/08:00027621

Organizační jednotka

Přírodovědecká fakulta

UT WoS

000255851900019

Klíčová slova anglicky

BRCA1; SNP analysis; MLPA; Large genomic rearrangements; Slovak family

Štítky

BRCA1, Large genomic rearrangements, MLPA, Slovak family, SNP analysis

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 25. 6. 2009 08:58, RNDr. Vladimíra Vallová, Ph.D.

Anotace

ORIG CZ

V originále

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 discrepancy of 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 and bilateral breast cancer respectively; the third carrier of the LGR was affected with an ovarian cancer. We have discovered rare BRCA1 germline LGR affecting complete gene. According to our knowledge, this is the first Slovak family with LGR in BRCA1 gene and second time, when the complete deletion of BRCA1 gene was described worldwide. Concerning the family history it is evident, that clinical effect of LGR is comparable with small deletions/insertions and substitutions and leads to the loss-off gene function. In conclusion, it is also important to note that DNA analysis of BRCA1/2 genes should be performed in all affected members of breast/ovarian cancer families concurrently, since the discrepancy in the SNPs haplotypes may indicate the presence of LGR.

Česky

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.

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární podstata buněčných a tkáňových regulací

Citovat

KONEČNÝ, Michal, Katarína ZÁVODNÁ, Vladimíra VRANOVÁ, Miriam VIZVARYOVÁ, Eva WEISMANOVÁ, Iveta MĹKVA, Petr KUGLÍK, Juraj KAUSITZ a Zdena BARTOŠOVÁ. Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques. Breast Cancer Res. MIDDLESEX HOUSE, 34 CLEVELAND ST, LONDON: BIOMED CENTRAL LTD, 2008, roč. 109, č. 3, s. 581-583. ISSN 1465-5411.

@article{816589,
   author = {Konečný, Michal and Závodná, Katarína and Vranová, Vladimíra and Vizvaryová, Miriam and Weismanová, Eva and Mĺkva, Iveta and Kuglík, Petr and Kausitz, Juraj and Bartošová, Zdena},
   article_location = {MIDDLESEX HOUSE, 34 CLEVELAND ST, LONDON},
   article_number = {3},
   keywords = {BRCA1; SNP analysis; MLPA; Large genomic rearrangements; Slovak family},
   language = {eng},
   issn = {1465-5411},
   journal = {Breast Cancer Res},
   title = {Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques},
   volume = {109},
   year = {2008}
}

TY  - JOUR
ID  - 816589
AU  - Konečný, Michal - Závodná, Katarína - Vranová, Vladimíra - Vizvaryová, Miriam - Weismanová, Eva - Mĺkva, Iveta - Kuglík, Petr - Kausitz, Juraj - Bartošová, Zdena
PY  - 2008
TI  - Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques
JF  - Breast Cancer Res
VL  - 109
IS  - 3
SP  - 581-583
EP  - 581-583
PB  - BIOMED CENTRAL LTD
SN  - 14655411
KW  - BRCA1
KW  - SNP analysis
KW  - MLPA
KW  - Large genomic rearrangements
KW  - Slovak family
N2  - 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 discrepancy of 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 and bilateral breast cancer respectively; the third carrier of the LGR was affected with an ovarian cancer. We have discovered rare BRCA1 germline LGR affecting complete gene. According to our knowledge, this is the first Slovak family with LGR in BRCA1 gene and second time, when the complete deletion of BRCA1 gene was described worldwide. Concerning the family history it is evident, that clinical effect of LGR is comparable with small deletions/insertions and substitutions and leads to the loss-off gene function. In conclusion, it is also important to note that DNA analysis of BRCA1/2 genes should be performed in all affected members of breast/ovarian cancer families concurrently, since the discrepancy in the SNPs haplotypes may indicate the presence of LGR.
ER  -

KONEČNÝ, Michal, Katarína ZÁVODNÁ, Vladimíra VRANOVÁ, Miriam VIZVARYOVÁ, Eva WEISMANOVÁ, Iveta MĹKVA, Petr KUGLÍK, Juraj KAUSITZ a Zdena BARTOŠOVÁ. Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques. \textit{Breast Cancer Res}. MIDDLESEX HOUSE, 34 CLEVELAND ST, LONDON: BIOMED CENTRAL LTD, 2008, roč.~109, č.~3, s.~581-583. ISSN~1465-5411.

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