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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Targeted genetic sequencing was performed on a 41-year-old female with metaplastic breast cancer (MBC) and neurofibromatosis type I (NF1). A custom panel capturing 279 cancer related genes was used to identify a germline pathogenic SNV in NF1, as well several other somatic alterations.
- Study Design:
- Case Set
- Study Type:
- Case Set
- Total number of consented subjects: 1
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Single case report
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Targeted Genotyping Illumina MiSeq N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Neurofibromatosis 1
- Breast Neoplasms
- Links to Related Genes
- Authorized Data Access Requests
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See articles in PMC citing this study accession
- Study Attribution
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Principal Investigator
- Sameek Roychowdhury, MD, PhD. Ohio State University, Columbus, OH, USA.
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Funding Source
- Institutional funds. Ohio State University, Columbus, OH, USA.
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Principal Investigator