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Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
- Source :
- Genetics in Medicine
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- 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.
- Subjects :
- Adult
0301 basic medicine
Pediatrics
medicine.medical_specialty
Early cancer
Genes, BRCA2
Genes, BRCA1
03 medical and health sciences
0302 clinical medicine
Neoplasms
medicine
Humans
Genetic Predisposition to Disease
Stage (cooking)
Medical diagnosis
skin and connective tissue diseases
Early Detection of Cancer
Genetic Association Studies
Germ-Line Mutation
Genetics (clinical)
Exome sequencing
Risk management
Aged
Biological Specimen Banks
Aged, 80 and over
Whole Genome Sequencing
business.industry
Brief Report
Cancer
Middle Aged
BRCA1
medicine.disease
BRCA2
Biobank
Pedigree
biobank
030104 developmental biology
030220 oncology & carcinogenesis
Mutation
Community health
Hereditary Breast and Ovarian Cancer Syndrome
Whole Exome sequencing
business
Subjects
Details
- ISSN :
- 10983600
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- Genetics in Medicine
- Accession number :
- edsair.doi.dedup.....28fa7dfc6b26704c3b62078f4d12976f