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BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation
  1. Elisa De Paolis1,2,
  2. Alessia Perrucci1,2,
  3. Claudia Marchetti1,3,
  4. Antonella Pietragalla1,
  5. Giovanni Scambia1,3,
  6. Andrea Urbani1,3,
  7. Anna Fagotti1,3 and
  8. Angelo Minucci1,2
  1. 1Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  2. 2Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  3. 3Università Cattolica del Sacro Cuore, Rome, Italy
  1. Correspondence to Dr Angelo Minucci, University Hospital Agostino Gemelli, Rome 00168, Italy; angelo.minucci{at}policlinicogemelli.it

Abstract

Objective BRCA1/2 (BRCA) genetic testing allows patients with high-grade serous ovarian cancer to receive appropriate medical management with molecular target therapy and prevention strategies. Most of the BRCA sequencing methods use blood as the primary source of germline DNA. Buccal swab emerged as an alternative collection device due to its convenient and non-invasive characteristics. This study assessed the suitability of buccal swabs as the DNA source in next-generation sequencing-based BRCA genotyping.

Methods Matched buccal swabs and blood samples were collected from 51 patients with high-grade serous ovarian cancer, including 29 BRCA-mutated patients, from June to December 2021. Buccal swabs were self-collected using COPAN FLOQSwabs hDNA Free. BRCA genes were amplified using Devyser’s BRCA next-generation sequencing kit and sequenced on the Illumina MiSeq platform. We evaluated collection and extraction procedures, amplification and sequencing performances, coverage data, blood/swab variant calling concordance, and interpretation.

Results Comparable sequencing parameters were observed between the two sample types in term of mean total number of reads passing filter for indexed sample (p>0.05) and sequencing coverage distribution, with a widespread overlap of mean depth of coverage/target region between blood and swab samples. An overall concordance of 100% in both polymorphisms and pathogenic variants calling between the two DNA sources were observed, including the copy number variation prediction.

Conclusions Data from this study support the use of buccal swabs as an alternative source of DNA for BRCA evaluation. The use of this alternative delivery mode of BRCA testing may facilitate access to care without compromising patient outcomes.

  • Homologous recombination
  • Ovarian Cancer
  • BRCA1 Protein
  • BRCA2 Protein

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • Twitter @annafagottimd

  • Contributors EDP and AM conceived the presented paper and wrote the original manuscript. AP supported the experimental steps. MC, SG, AU, and AM supervised the project. All authors discussed, edited, and contributed to the final manuscript. AM acts as the guarantor of the study.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.