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InDEL instability in two different tumoral tissues and its forensic significance
İpek Gürel1,2, Faruk Aşıcıoğlu3, Gökhan Ersoy4
1Department of Science, Institute of Forensic Sciences and Legal Medicine, İstanbul University- Cerrahpaşa, İstanbul, Türkiye.
Forensic Science, Medicine, and Pathology
|April 3, 2024
Summary
Malignant tumor DNA can be used for forensic profiling, but genetic instability affects results. Insertion/deletion (InDel) markers show lower instability in thyroid tumors than breast tumors, making them potentially useful for forensic identification.
Area of Science:
- Forensic genetics
- Molecular biology
- Cancer research
Background:
- Forensic DNA profiling relies on short tandem repeats (STRs), but tumor genetic instability can cause errors.
- Insertion/deletion polymorphisms (InDels) offer advantages over STRs and single nucleotide polymorphisms (SNPs) for forensic applications.
- Limited research exists on InDel instability in tumoral tissues.
Purpose of the Study:
- To assess InDel instability in formalin-fixed paraffin-embedded (FFPE) breast and thyroid tumor tissues.
- To evaluate the suitability of FFPE tumor samples for forensic genetic identification.
Main Methods:
- Analysis of 36plex InDel Panel in 47 FFPE tumor samples (26 breast, 21 thyroid).
- Quantification of mutational changes, including loss of heterozygosity.
Main Results:
- High InDel instability observed in 80.76% of breast cancer cases.
- Lower instability (28.57%) noted in thyroid cancer cases, with mutations at 1-2 loci.
- Loss of heterozygosity was the most common alteration in both tissue types.
Conclusions:
- FFPE thyroid tumor tissues show potential for forensic genetic identification due to lower InDel instability.
- FFPE breast cancer tissues require careful examination for forensic use.
- InDel analysis is promising for forensic identification, but awareness of potential profile discrepancies is crucial.
- Combining InDels with SNPs and microhaplotypes can improve identification power.
