Cancer Diagnosis Program | Biorepositories and Biospecimen Research Branch

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Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays

Author(s): Walker Amy H, Najarian Derek, White David L, Jaffe Julie M, Kanetsky Peter A, Rebbeck Timothy R

Publication: Environ Health Perspect, 1999, Vol. 107, Page 517

PubMed ID: 10378997 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   To assess the efficacy of PCR based genotyping via analysis of CYP3A4, GSTM1, and beta globin genes in 995 buccal cell samples (65% freshly acquired and 35% mailed samples). All specimens were self-collected using a buccal cell swab.

   Summary of Findings:

   Mailed biospecimens had a 77.6% success rate, significantly lower than fresh biospecimens (96%). Thus, mailed biospecimens also required a greater mean number of PCR attempts compared to fresh specimens. PCR success rate was gene loci dependent in fresh but not mailed specimens. While PCR failure rates remained high after purification, 58.3% of purified samples resulted in successful PCR amplification of CYP3A4. No significant differences in DNA yield were observed among samples resulting in successful PCR amplifcation and those that did not.

   Biospecimens

   • Cell - Buccal

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   DNA	PCR

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   PCR Specific	Targeted nucleic acid	CYP3A4 GSTM1 beta-globin
   Storage	Time at room temperature	0-9 days
   Storage	Between site transportation method	Mailed Not transported

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2. Study Purpose

   The purpose of this study was to determine if the time from biospecimen receipt to processing influences PCR success.

   Summary of Findings:

   The time period from specimen receipt to processing (<4 days) was not correlated with PCR success rate or mailed versus fresh biospecimen status.

   Biospecimens

   • Cell - Buccal

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   DNA	PCR

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Storage	Storage duration	0 days <4 days
   Storage	Between site transportation method	Mailed Not transported

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3. Study Purpose

   The purpose of this study was to determine the effect of long term buccal specimen storage (12-41 months) on the PCR success rate for GSTM1 and GSTT1 amplification.

   Summary of Findings:

   PCR success rates were not affected by buccal specimen storage for more than 36 months at 4 degrees C for any of the genes examined.

   Biospecimens

   • Cell - Buccal

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   DNA	PCR

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Storage	Storage duration	12-24 months 24-36 months 36-41 months
   PCR Specific	Targeted nucleic acid	GSTM1 GSTT1
   Storage	Between site transportation method	Mailed Not transported

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