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result(s) for
"Garg, Tullika K."
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Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
by
Shah, Chaitali K
,
Rahm, Alanna Kulchak
,
Meyer, Michelle N
in
631/208/2489/1512
,
631/208/457
,
631/208/726/649
2018
Purpose
The 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.
Methods
Whole-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.
Results
Thirty-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.
Conclusion
Screening 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.
Journal Article