Nonmalignant Formalin-Fixed Paraffin-Embedded Tissues as a Source to Study Germline Variants and Cancer Predisposition : A Systematic Review

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http://hdl.handle.net/10138/333372

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Youssef , O , Almangush , A , Zidi , Y H S , Loukola , A & Carpen , O 2020 , ' Nonmalignant Formalin-Fixed Paraffin-Embedded Tissues as a Source to Study Germline Variants and Cancer Predisposition : A Systematic Review ' , Biopreservation and biobanking , vol. 18 , no. 4 , pp. 337-345 . https://doi.org/10.1089/bio.2020.0021

Title: Nonmalignant Formalin-Fixed Paraffin-Embedded Tissues as a Source to Study Germline Variants and Cancer Predisposition : A Systematic Review
Author: Youssef, Omar; Almangush, Alhadi; Zidi, Yossra H. S.; Loukola, Anu; Carpen, Olli
Contributor: University of Helsinki, Department of Pathology
University of Helsinki, HUS Head and Neck Center
University of Helsinki, Research Program in Systems Oncology
University of Helsinki, HUSLAB
University of Helsinki, HUSLAB
Date: 2020-08-01
Language: eng
Number of pages: 9
Belongs to series: Biopreservation and biobanking
ISSN: 1947-5535
URI: http://hdl.handle.net/10138/333372
Abstract: Background:Archived formalin-fixed paraffin-embedded (FFPE) specimens from nonmalignant tissues derived from cancer patients are a vast and potentially valuable resource for high-quality genotyping analyses and could have a role in establishing inherited cancer risk. Methods:We systematically searched PubMed, Ovid MEDLINE, and Scopus databases for all articles that compared genotyping performance of DNA from nonmalignant FFPE tissue with blood DNA derived from cancer patients irrespective of tumor type. Two independent researchers screened the retrieved studies, removed duplicates, excluded irrelevant studies, and extracted genotyping data from the eligible studies. These studies included, but were not limited to, genotyping technique, reported call rate, and concordance. Results:Thirteen studies were reviewed, in which DNA from nonmalignant FFPE tissues derived from cancer patients was successfully purified and genotyped. All these studies used different approaches for genotyping of DNA from nonmalignant FFPE tissues to amplify single nucleotide polymorphisms (SNPs) and to estimate of loss of heterozygosity. The concordance between genotypes from nonmalignant FFPE tissues and blood derived from cancer patients was observed to be high, whereas the call rate of the tested SNPs was not reported in all included studies. Conclusion:This review illustrates that DNA from nonmalignant FFPE tissues derived from cancer patients can serve as an alternative and reliable source for assessment of germline DNA for various purposes, including assessment of cancer predisposition.
Subject: genotyping
nonmalignant
formalin-fixed paraffin-embedded tissues
blood
cancer
PERIPHERAL-BLOOD
TUMOR
DNA
CONCORDANCE
ASSOCIATION
GENOTYPES
QUALITY
SAMPLES
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
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