Analysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction

Rory L. Cochran, Karen Cravero, David Chu, Bracha Erlanger, Patricia Valda Toro, Julia A. Beaver, Daniel J. Zabransky, Hong Yuen Wong, Justin Cidado, Sarah Croessmann, Heather A. Parsons, Minsoo Kim, Sarah J. Wheelan, Pedram Argani, Ben Ho Park

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Loss-of-heterozygosity (LOH) analysis of archival tumor tissue can aid in determining the clinical significance of BRCA variants. Here we describe an approach for assessing LOH in formalin-fixed, paraffin-embedded (FFPE) tissues using variant-specific probes and droplet digital polymerase chain reaction (ddPCR). We evaluated LOH in 2 related breast cancer patients harboring a rare missense BRCA2 variant of unknown clinical significance (c.6966G>T; M2322I). Conventional PCR followed by Sanger sequencing suggested a change in allelic abundance in the FFPE specimens. However, we found no evidence of LOH as determined by the allelic ratio (wild type-variant) for BRCA2 in both patients' archival tumor specimens and adjacent normal control tissues using ddPCR. In summary, these experiments demonstrate the utility of ddPCR to quickly and accurately assess LOH in archival FFPE tumor tissue.

Original languageEnglish (US)
Pages (from-to)1546-1550
Number of pages5
JournalHuman pathology
Issue number7
StatePublished - Jul 2014


  • BRCA2
  • Droplet digital PCR
  • Familial breast cancer
  • LOH
  • VUS

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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