Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

C. H. H. Kerkhofs, A. B. Spurdle, P. J. Lindsey, D. E. Goldgar, E. B. Gomez-Garcia*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Purpose: One way of evaluating family history (FH)for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the "BRCA-ness" of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) status based on pedigree information differed due to changes in FH since intake, both in families with a pathogenic variant (BRCAm) and in families with wild-type (BRCAwt). Patients and methods: We compared the BRCA1/2 pathogenic variant detection probabilities between intake and most recent pedigree for BRCAm families (n = 64) and BRCAwt (n = 118) using the BRCAPRO software program. Results: Follow-up time between intake and most recent pedigree was significantly longer (p
Original languageEnglish
Article number10
JournalHereditary Cancer in Clinical Practice
Publication statusPublished - 30 Apr 2016


  • BRCA1/2
  • Variant classification models
  • Family history
  • Variants of uncertain clinical significance
  • Intake pedigrees

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