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


ABSTRACT: 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.

SUBMITTER: Buchanan AH 

PROVIDER: S-EPMC5930270 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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

Buchanan Adam H AH   Manickam Kandamurugu K   Meyer Michelle N MN   Wagner Jennifer K JK   Hallquist Miranda L G MLG   Williams Janet L JL   Rahm Alanna Kulchak AK   Williams Marc S MS   Chen Zong-Ming E ZE   Shah Chaitali K CK   Garg Tullika K TK   Lazzeri Amanda L AL   Schwartz Marci L B MLB   Lindbuchler D'Andra M DM   Fan Audrey L AL   Leeming Rosemary R   Servano Pedro O PO   Smith Ashlee L AL   Vogel Victor G VG   Abul-Husn Noura S NS   Dewey Frederick E FE   Lebo Matthew S MS   Mason-Suares Heather M HM   Ritchie Marylyn D MD   Davis F Daniel FD   Carey David J DJ   Feinberg David T DT   Faucett W Andrew WA   Ledbetter David H DH   Murray Michael F MF  

Genetics in medicine : official journal of the American College of Medical Genetics 20171026 5


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  ...[more]

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