Malignant Tumors and Forensics – Dilemmas and Proposals

Budimlija, Zoran; Lü, Chan; Axler-DiPerte, Grace L.; Seifarth, Jessica; Popiolek, Dorota; Fogt, Franz; Prinz, Mechthild

doi:10.3325/cmj.2009.50.218

Cited by 16 publications

(9 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Indeed, mutations were detected in two out of 11 breast tumor samples (18%) and in five out of 19 hepatic tumor samples (26%). With regards to breast tumors, the frequency of STR mutations appears to be relatively low, as borne out by previous studies [ 7 , 19 ]. To our knowledge, previous studies concerning STR genomic instability in hepatic tumors are lacking.…”

Section: Discussionmentioning

confidence: 85%

“…In order to do this, we have used the AmpF STR ® NGM SelectTM PCR Amplification KitTM and InDelPlex INDEL Polymorphism Detection Kit for the analysis of STRs and InDels, respectively. As highlighted by Budimlija et al, it is important to evaluate the stability and Medicina 2021, 57, of 13 reliability of alleles using genetically-altered biological material, especially before their application to archival tissues of pathological origin [19].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Comparison of the Allelic Alterations between InDel and STR Markers in Tumoral Tissues Used for Forensic Purposes

et al. 2021

View full text Add to dashboard Cite

Background and objectives: Over the last two decades, human DNA identification and kinship tests have been conducted mainly through the analysis of short tandem repeats (STRs). However, other types of markers, such as insertion/deletion polymorphisms (InDels), may be required when DNA is highly degraded. In forensic genetics, tumor samples may sometimes be used in some cases of human DNA identification and in paternity tests. Nevertheless, tumor genomic instability related to forensic DNA markers should be considered in forensic analyses since it can compromise genotype attribution. Therefore, it is useful to know what impact tumor transformation may have on the forensic interpretation of the results obtained from the analysis of these polymorphisms. Materials and Methods: The aim of this study was to investigate the genomic instability of InDels and STRs through the analysis of 55 markers in healthy tissue and tumor samples (hepatic, gastric, breast, and colorectal cancer) in 66 patients. The evaluation of genomic instability was performed comparing InDel and STR genotypes of tumor samples with those of their healthy counterparts. Results: With regard to STRs, colorectal cancer was found to be the tumor type affected by the highest number of mutations, whereas in the case of InDels the amount of genetic mutations turned out to be independent of the tumor type. However, the phenomena of genomic instability, such as loss of heterozygosity (LOH) and microsatellite instability (MSI), seem to affect InDels more than STRs hampering genotype attribution. Conclusion: We suggest that the use of STRs rather than InDels could be more suitable in forensic genotyping analyses given that InDels seem to be more affected than STRs by mutation events capable of compromising genotype attribution.

show abstract

Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Comparison of the Allelic Alterations between InDel and STR Markers in Tumoral Tissues Used for Forensic Purposes

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Cancerous tissue showed great variability in their genetic phenotypes due to microsatellite instability (MSI), characterized by contraction or expansion in STR length, or loss of heterozygosity (LOH), defined by mutation of one allele followed by deletion of the remaining one, which possibly resulted in a false interpretation in forensic casework. The genetic alterations at the marker loci may result from erroneous deduction of DNA profiles [4,5].…”

Section: Resultsmentioning

confidence: 99%

Is it reliable to use paraffin embedded tumor tissues as biological evidence in parentage cases?

Canan

Serin

2019

Forensic Science International: Genetics Supplement Series

View full text Add to dashboard Cite

Short tandem repeats (STR) are reliable markers used for forensic identification and paternity testing. In some cases, histological paraffin blocks containing malignant cells can be used for STR typing in identification and paternity. DNA profiling and result interpretation with these samples often becomes a challenging job. The malignant tissues may show preferential amplification, loss of heterozygosity, and microsatellite instability.Due to the suspected paternity case, two paraffin blocks were sent for DNA analysis by Court of Justice. Pathology report of the paraffin blocks have shown that they contain lung cancer tissues taken with bronchoscopy. After extracting DNA with silica based method from the samples taken from different parts of these two blocks, 21 autosomal STR loci and 17 gonosomal STR loci were studied.When we have compared the STR profiles of son and his alleged father, Y-chromosomal STR loci matched fully. But for 2 of the 21 autosomal STR loci were found mismatches in father-son comparing. These two mismatched loci have been homozygous in alleged father. Moreover, 10 of 21 autosomal loci have shown homozygosity, and at one locus D16S539 has three alleles. While increased homozygosity in FFPE sample of alleged father has increased the paternity index, mismatched loci have lessened it in our model with mutations but without dropout.These results suggest that great care and proper statistical model should be taken in the evaluation of the DNA typing results obtained from clinical cancerous specimens, in particular when no other reference samples containing normal tissue are available.

show abstract

“…Este tipo de amostra é importante para diagnósticos médicos, 1 estudos genéticos retrospectivos e epidemiológicos 2 , uso em investigação forense [3][4][5][6] e são uma excelente fonte de DNA, 7,8 embora sua recuperação para analise molecular ainda seja um desafi o 9 .…”

Section: Introductionunclassified

Extração de DNA para análise da amelogenina em amostras fixadas em formalina, incluídas em parafina e armazenadas por 1 e 5 anos no Departamento de Patologia da Universidade Federal de São Paulo

Funabashi

Iwamura

2013

Saúde, Ét. Just.

View full text Add to dashboard Cite

INTRODUÇÃOO processo de fi xação em formalina e inclusão em parafi na (FFPE) é considerado um método padrão de preservação de amostras biológicas por longos períodos. Este tipo de amostra é importante para diagnósticos médicos, 1 estudos genéticos retrospectivos e epidemiológicos 2 , uso em investigação forense 3-6 e são uma excelente fonte de DNA, 7,8 embora sua recuperação para analise molecular ainda seja um desafi o 9 .O processamento de amostras parafi nadas, apesar de ser padronizado, pode variar de acordo com cada rotina laboratorial 10 . Extensas ligações cruzadas entre proteínas nos tecidos e fragmentação do DNA podem ser encontradas e, portanto, uma baixa qualidade de DNA pode ser obtida 11 .Existem diversos protocolos descritos para a extração de DNA em diferentes amostras. Entretanto, a extração de DNA em tecidos parafi nados requer protocolos especiais, pois este tipo de material geralmente é escasso, degradado, e pode conter substâncias que inibem os procedimentos moleculares 12 . Desta maneira, é importante compreender e analisar cada etapa do procedimento de amostras parafi nadas: desde a fi xação até a análise molecular. OBJETIVOO objetivo deste estudo foi avaliar o DNA extraído de fragmentos não tumorais de fígado, baço e cérebro normais FFPE obtidos de necropsia de 8 a 24 horas post mortem, recentes, arquivados por 1 e 5 anos e em amostras congeladas, utilizando três métodos de extração de DNA. Além disso, a amplifi cação do gene da actina (136pb) e da amelogenina humana (212pb-218pb/106pb-112pb) foi realizada com o propósito de, respectivamente, avaliar a efi cácia do método de extração de DNA e determinar o sexo dos indivíduos neste tipo de amostra. MATERIAIS E MÉTODOAmostras FFPE: recentes, armazenadas por 1 e por 5 anos Nosso estudo envolveu 12 casos de necropsia recentes, dos quais foram coletadas amostras normais de fígado (n=10), baço (n=10) e cérebro (n=10) em duplicata, sendo que uma parte FFPE de acordo com a rotina de patologia e o outro grupo foi congelado para ser utilizado como controle. Além disso, utilizamos blocos de parafi na contendo fragmentos normais de fígado, baço e cérebro (n=10 cada tecido) armazenados por 1 (13 casos) e 5 anos (15 casos), todos obtidos de exames de necropsia, de 8 a 24 horas post mortem.

show abstract

Malignant Tumors and Forensics – Dilemmas and Proposals

Cited by 16 publications

References 33 publications

Comparison of the Allelic Alterations between InDel and STR Markers in Tumoral Tissues Used for Forensic Purposes

Comparison of the Allelic Alterations between InDel and STR Markers in Tumoral Tissues Used for Forensic Purposes

Is it reliable to use paraffin embedded tumor tissues as biological evidence in parentage cases?

Extração de DNA para análise da amelogenina em amostras fixadas em formalina, incluídas em parafina e armazenadas por 1 e 5 anos no Departamento de Patologia da Universidade Federal de São Paulo

Contact Info

Product

Resources

About