Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Adam H. Buchanan, Kandamurugu Manickam, Michelle N. Meyer, Jennifer K. Wagner, Miranda L.G. Hallquist, Janet L. Williams, Alanna Kulchak Rahm, Marc S. Williams, Zong Ming E. Chen, Chaitali K. Shah, Tullika K. Garg, Amanda L. Lazzeri, Marci L.B. Schwartz, D'andra M. Lindbuchler, Audrey L. Fan, Rosemary Leeming, Pedro O. Servano, Ashlee L. Smith, Victor G. Vogel, Noura S. Abul-HusnFrederick E. Dewey, Matthew S. Lebo, Heather M. Mason-Suares, Marylyn D. Ritchie, F. Daniel Davis, David J. Carey, David T. Feinberg, W. Andrew Faucett, David H. Ledbetter, Michael F. Murray

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


PurposeThe clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-Associated cancers can help inform assessments of clinical utility.MethodsWhole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants. Clinically confirmed variants were disclosed to patient-participants and their clinicians. We queried patient-participants' electronic health records for BRCA1/2-Associated cancer diagnoses and risk management that occurred within 12 months after results disclosure, and calculated the percentage of patient-participants of eligible age who had begun risk management.ResultsThirty-seven MyCode patient-participants were unaware of their pathogenic/likely pathogenic BRCA1/2 variant, had not had a BRCA1/2-Associated cancer, and had 12 months of follow-up. Of the 33 who were of an age to begin BRCA1/2-Associated risk management, 26 (79%) had performed at least one such procedure. Three were diagnosed with an early-stage, BRCA1/2-Associated cancer-including a stage 1C fallopian tube cancer-via these procedures.ConclusionScreening for pathogenic BRCA1/2 variants among unselected individuals can lead to occult cancer detection shortly after disclosure. Comprehensive outcomes data generated within our learning healthcare system will aid in determining whether population-wide BRCA1/2 genomic screening programs offer clinical utility.

Original languageEnglish (US)
Pages (from-to)554-558
Number of pages5
JournalGenetics in Medicine
Issue number5
StatePublished - Apr 1 2018

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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