Dataset Information
Mutations in Breast Cancer Patient with Neurofibromatosis
Ontology highlight
ABSTRACT: 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.
REPOSITORIES: dbGaP
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| GapExchange_phs001566.v1.p1.xml | Xml | |||
| dbGaPEx2.1.5.xsd | Other | |||
| Study_Report.phs001566.BC_NF1_LOH.v1.p1.MULTI.pdf | ||||
| manifest_phs001566.BC_NF1_LOH.v1.p1.c1.GRU.pdf | ||||
| datadict_v2.xsl | Other |
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