A2 Refereed review article in a scientific journal

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




AuthorsYoussef O, Almangush A, Zidi YHS, Loukola A, Carpen O

PublisherMARY ANN LIEBERT, INC

Publication year2020

JournalBiopreservation and Biobanking

Journal name in sourceBIOPRESERVATION AND BIOBANKING

Journal acronymBIOPRESERV BIOBANK

Volume18

Issue4

First page 337

Last page345

Number of pages9

ISSN1947-5535

DOIhttps://doi.org/10.1089/bio.2020.0021

Web address https://www.liebertpub.com/doi/10.1089/bio.2020.0021

Self-archived copy’s web addresshttps://helda.helsinki.fi/bitstream/10138/333372/1/Youssef_Manuscript_2020.pdf


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.



Last updated on 2024-26-11 at 18:37