Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

Garritano, Sonia; Gemignani, Federica; Voegele, Catherine; Nguyen-Dumont, Tú; Calvez-Kelm, Florence Le; Silva, Deepika De; Lesueur, Fabienne; Landi, Stefano; Tavtigian, Sean V.

doi:10.1186/1471-2156-10-5

Cited by 131 publications

(110 citation statements)

References 28 publications

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“…It is a closed technique so very less chances of contamination and also it is non-destructive so the same sample can be used to analyse further. The development of new fluorescent dye makes this method more attractive and target oriented for mutation scanning [23][24][25].…”

Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Frequency of TP53 Mutations and its Impact on Drug Sensitivity in Acute Myeloid Leukemia?

Shah

Seedhouse

2012

Ind J Clin Biochem

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Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Frequency of TP53 Mutations and its Impact on Drug Sensitivity in Acute Myeloid Leukemia?

Shah

Seedhouse

2012

Ind J Clin Biochem

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“…Additionally, it could be affected by the presence of many melting domains. [36][37][38] However, several strategies can be used to achieve better resolution: genotyping using small amplicons, unlabelled probes, snapback primers, internal temperature calibrators and/or mixing patient samples with the reference control genotype. [39][40][41][42][43][44] We used internal calibrators and DNA mixing to improve the resolution of individual genotypes for four amplicons of the COX genes.…”

Section: Discussionmentioning

confidence: 99%

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

et al. 2012

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Cytochrome-c oxidase (COX) deficiency is one of the common childhood mitochondrial disorders. Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. Molecular diagnosis is difficult because of the number of genes involved in COX biogenesis and assembly. The aim of this study was to screen for mutations in 15 nuclear genes that encode the 10 structural subunits, their isoforms and two assembly factors of COX in 60 unrelated Czech children with COX deficiency. Nine novel variants were identified in exons and adjacent intronic regions of COX4I2, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis. Online bioinformatics servers were used to predict the importance of the newly identified amino-acid substitutions. The newly characterized variants updated the contemporary spectrum of known genetic sequence variations that are present in the Czech population, which will be important for further targeted mutation screening in Czech COX-deficient children. HRM and predictive bioinformatics methodologies are advantageous because they are low-cost screening tools that complement largescale genomic studies and reduce the required time and effort.

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“…HRM furthermore offers significant savings in cost and turnaround time, and is an attractive choice for p53 mutation scanning, especially in high-throughput environments. Sonia et al (16) undertook mutation screening of the entire p53 locus by HRM and direct sequencing using a set of 47 samples, and found the sensitivity and specificity of HRM for sequence variant detection to be 1.0 and 0.83. These results suggest that HRM provides sensitive assays for the detection of new sequence variants and the genotyping of known polymorphisms.…”

Section: Discussionmentioning

confidence: 99%

“…Certain studies have validated the use of HRM as a method for scanning somatic mutations in p53. It is sensitive, rapid and cost effective, and markedly reduces the amount of sequencing required in the mutational study of p53, and thereby the cost of these studies (16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%

Genetic mutations and expression of p53 in non-invasive breast lesions

et al. 2010

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Abstract. Breast carcinogenesis results from the accumulation of numerous somatic genetic alterations. although mutations of the tumor suppressor gene p53 are among the most common alterations identified in invasive breast carcinomas, it is not clear whether its alteration occurs frequently in non-invasive breast lesions, including usual ductal hyperplasia (UDH), atypical ductal hyperplasia (ADH) and ductal carcinoma in situ (DCIS). p53 mutations were examined in 140 cases of non-invasive breast lesions, including UDH, ADH and DCIS, by high-resolution melting (HRM), followed by DNA sequence analysis. Two hundred and forty cases of non-invasive breast lesions were subjected to the immunohistochemical staining of p53 protein. The HRM and sequencing analysis demonstrated that the positive rates of p53 mutation were 0.0, 12.7 and 21.6% in UDH, ADH and DCIS, respectively. p53 protein expression was detected in none of the UDH, 14.6% of the ADH and 31.4% of the DCIS samples. Statistically, p53 mutation and protein accumulation gradually increased from UDH to ADH and to DCIS (P<0.05). There was a significantly positive association between p53 mutations and expression in these samples. p53 mutations and accumulation occur in non-invasive breast lesions, including ADH and DCIS, and may represent early events in breast carcinogenesis.

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Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

Abstract: Background: Together single nucleotide substitutions and small insertion/deletion variants are the most common form of sequence variation in the human gene pool.

Cited by 131 publications

References 28 publications

RETRACTED ARTICLE: Frequency of TP53 Mutations and its Impact on Drug Sensitivity in Acute Myeloid Leukemia?

RETRACTED ARTICLE: Frequency of TP53 Mutations and its Impact on Drug Sensitivity in Acute Myeloid Leukemia?

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Genetic mutations and expression of p53 in non-invasive breast lesions

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