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

Konečný, M; Zavodna, K; Vranová, Vladimíra; Vizvaryova, M; E, Weismanová; Mlkva, Iveta; Kuglík, Petr; Kausitz, J; Bartosova, Zdena

doi:10.1007/s10549-007-9670-0

Cited by 12 publications

(10 citation statements)

References 12 publications

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“…To our knowledge, this represents the third case of a Hereditary Breast and Ovarian Cancer patient with a complete BRCA1 gene deletion [19,20]. This rearrangement was detected by MLPA and characterized by Array CGH analysis.…”

Section: Discussionmentioning

confidence: 97%

“…The size of these BRCA1 LGRs varies from 244 bp, the smallest size deleting exon 5 (NG_005905.2:g.111421_111664del) [35], to tens of kilobases removing the complete BRCA1 gene. As far as we know, there are only two Hereditary Breast and Ovarian Cancer families with LGRs including a whole-gene BRCA1 deletion reported to date [19,20]. De la Hoya et al [19] reported a Spanish family (HSP-198) with a complete deletion of BRCA1 that segregates with the disease within the family.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, they did not characterize the region affected by the deletion. In 2008, Konecny et al [20] also identified a complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA (kits P002 and P0087) and a confirmatory Array CGH analysis. The alteration was also tested to segregate with the disease in the affected family.…”

Section: Discussionmentioning

confidence: 99%

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A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

et al. 2011

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BackgroundGermline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.MethodsWe analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH.ResultsWe describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes.ConclusionThis finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

et al. 2011

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“…The aim of this study is to describe the possible approaches for mutational screening of KRAS gene in FFPE tissues and to introduce the mutation screening of the KRAS gene using the Real Time PCR analysis at our department and so to expand the molecular diagnoses already used in clinical practice in Slovak Republic [7][8][9][10][11]. We also suggested the possible effective screening strategies, with priority to the sensitivity and the economic costs.…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of KRAS mutation status in metastatic colorectal cancer patients

Zavodna

Konečný²,

Krivulcik³

et al. 2009

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colorectal carcinoma (crc) represents a serious problem worldwide: in the slovak republic are diagnosed about 2600 new crc cases annually and its incidence is increasing. colorectal cancer patients may succumb to the disease because of local recurrence or local formation of metastasis. Therefore, it is necessary to modulate therapeutic algorithm with new methods, leading to early diagnostic of crc or changing the existing therapeutic procedures. recent progresses have been made in understanding of eGFr pathway involved in crc carcinogenesis, especially the role of ras protein. mutations in KRAS oncogene are frequently found in human cancers, particularly colorectal, pancreatic, billiary tract and lung tumors. The presence of the KRAS mutations in metastatic colorectal cancer patients correlates with lack of response to the certain epidemal growth factor receptor (eGFr) inhibitor therapies, such as panitumumab and cetuximab. consequently, screening for KRAS mutations status may be used as a prognostic marker, because the crc patients with KRAS positive tumors have a worse prognosis.The aim of our study was to establish the methods for rapid and sensitive detection of KRAS mutation status in formalin fixed paraffin embedded (FFpe) tissues dNa. We applied real Time pcr analysis (Therascreen Kras mutation Test Kit) and sequencing analysis (optimised for the analysis of FFpe tissues) to detect somatic mutations in codon 12 and 13 of KRAS gene. Both methods were used concurrently in the panel of dNa isolated from 25 colorectal FFpe tissues tumor. The positive or negative results from all 25 samples were identified by both methods independently. The KRAS mutations were presented in 8 of 25 patients (32%). our results demonstrate that the real Time pcr analysis can be used for detection of somatic KRAS mutations in FFpe clinical samples. however, we also recognize that the sequencing analysis of approximately 200bp amplicons may be used for KRAS mutations status screening, but with care of method sensitivity.

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“…Testing has primarily been carried out by Southern blot analysis. Only the most recent studies have applied MLPA as a comprehensive screening method [3,4,7,12,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38] and the value of BRCA2 screening for such alterations is still undetermined.…”

Section: Introductionmentioning

confidence: 99%

Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women

et al. 2008

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

Cited by 12 publications

References 12 publications

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

Genetic analysis of KRAS mutation status in metastatic colorectal cancer patients

Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women

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