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Sebaceous carcinoma tumor/normal exome sequencing and transcriptome sequencing. Transcriptome sequencing of

Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominated 10/32 samples, while 9 were instead defined by microsatellite instability (MSI) mutations. UV-damage SeC exhibited poorly differentiated, infiltrative histopathologycompared to MSI signature SeC (p = 0.003), features previously associated with dissemination. Strikingly, UV-damage SeC transcriptomes and anatomic distributionclosely resembling those of cutaneous squamous cell carcinomas (SCC), implicating sun-exposed keratinocytes as a cell of origin. Like SCC, this UV-damage subclass harbors a high somatic mutation burden with >50 mutations/Mb, predicting immunotherapeutic response. In contrast, ocular SeC acquire far fewer mutations without a dominant signature, but show frequent truncating mutations in the ZNF750 epidermal differentiation regulator. Our data exemplify how different mutational processes convergently drive histopathologically related but clinically distinct cancers.

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The UCSF Dermatology Sebaceous Carcinoma Genetic Analysis Data Policy

To access data from this study, the following agreement must be completed and signed. A. Data Recipient Information List information for Institution receiving the Data Set (“Institution”) and Principal Investigator (“Principal Investigator”) and include any co-investigators, staff, or students (collectively, “Other Users”) that will be provided access to the Data Set at Institution. Effective Date Name of Institution Institution Address Name of Principal Investigator Title Department Address 1 Address 2 City, State, Zip Phone Fax Email Title of Project Name(s) of Other Users Project Summary (Limit to this space) Data Set Analysis Plan (“Study”) 1. Introduction (Rationale and Background) 2. Research Aims 3. Hypotheses. 4. Analytical plan. 5. References. B. UCSF Principal Investigator Contact Information Name: Raymond J. Cho, M.D., Ph.D. Title: Associate Professor, UCSF Dermatology Address: 2340 Sutter Street San Francisco, CA. 94115 Tel: (415) 514-9769 Email: raymond.cho@ucsf.edu DATA ACCESS AGREEMENT This Data Access Agreement (“Agreement”) is between the Regents of the University of California, on behalf of its San Francisco campus (“UCSF”), and the Institution (as defined in Section A) and is effective as of the “Effective Date”, indicated in Section A. Institution and Principal Investigator, as defined in Section A, are collectively referred to herein as “Data Recipient”. This Agreement governs the terms of access to the de-identified dataset generated at UCSF under the direction of Raymond J. Cho M.D., Ph.D. (“UCSF Principal Investigator”), entitled: “The UCSF Dermatology Sebaceous Carcinoma Genetic Analysis Project” (“Data Set”). 1. Responsibility of UCSF The Data Set was collected in accordance with applicable laws, regulations, patient consent forms and authorizations pursuant to Institutional Review Board (IRB) approval and was de-identified in accordance with the Health Insurance Portability and Accountability Act (HIPAA). 2. Responsibility of Data Recipient Data Recipient agrees that: a. the Data Set shall be used solely for the Study described in Section A; b. any additional uses of the Data Set by the Data Recipient shall be covered under a separate agreement; c. the Data Set shall be used in compliance with all applicable local, state and federal statutes and regulations; d. the Data Set shall be used only at the Institution by the Principal Investigator and the Other Users working under his/her direct supervision; Principal Investigator will notify the UCSF Principal Investigator of any departures of the Principal Investigator or Other Users within 30 days of the changes made. e. the Data Set shall not be transferred, in whole or in part, to anyone outside the Institution without prior written consent of UCSF. f. Data Recipient will not contact or make any effort to identify individuals who are or may be included in the Data Set. 3. Confidentiality Data Recipient shall not disclose the Data Set to anyone except the Principal Investigator and the Other Users for the purposes of the Study. The Data Recipient will use the Data Set only in the conduct of the Study and evaluation of its results. Data Recipient agrees to preserve, at all times, the confidentiality of the Data Set. Data Recipient will use the Data Set in a secure manner using appropriate administrative, physical storage and technical safeguards to prevent use or disclosure of the data other than as provided for in this Agreement. Data Recipient agrees to notify the UCSF Principal Investigator within 5 days of becoming aware of any use or disclosure of the Data Set in violation of this Agreement. 4. Publication Data Recipient agrees to acknowledge the UCSF Principal Investigator in any publication, presentation, abstract or other work based in whole or in part on the Data Set. Data Recipient will cite the UCSF Chordoid Glioma of the Third Ventricle Genome Project Data Set as the source of the data in the methods. 5. Intellectual Property Inventorship of inventions invented by Data Recipient in the performance of the Study (“Inventions”) shall be determined according to U.S. patent law and ownership will vest in the party to whom the inventor has an obligation to assign all right, title and interest in the Invention. Nothing in this Agreement grants Data Recipient any rights to use the Data Set for commercial purposes. UCSF explicitly retains ownership of the Data Set and this Agreement does not restrict UCSF’s right to distribute the Data Set to other entities. Notwithstanding the foregoing, Data Recipient shall not pursue intellectual property rights which occur as a result of the use of the Data Set in the performance of the Study without first notifying UCSF so that UCSF can assert claims to legal inventorship under U.S. law. Data Recipient agrees not to make intellectual property claims on the Data Set and not to use intellectual property protection in ways that would prevent or block access to the Data Set. This Agreement in no way alters any rights or interests of the U.S. government. 6. Limitation of Liability THE DATA SET IS EXPERIMENTAL IN NATURE AND IS BEING MADE AVAILABLE TO RECIPIENT WITH NO WARRANTIES, EXPRESS OR IMPLIED, OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE OR OTHERWISE. IN PARTICULAR, UCSF DOES NOT REPRESENT OR WARRANT THAT THE USE OF THE DATA SET WILL NOT INFRINGE OR VIOLATE ANY PATENT OR PROPRIETARY RIGHTS OF THIRD PARTIES. To the extent permitted by law, Institution assumes all liability for damages which may arise from the use, storage or disposal of the Data Set by Data Recipient. UCSF (including, but not limited to, its directors, trustees, officers employees, students and agents, as applicable), will not be liable to the Data Recipient for any loss, claim or demand made by or against the Data Recipient or Other Users, due to or arising from the use of the Data Set by the Data Recipient or Other Users or due to unavailability of or interruption in Data Set access for whatever reason, except to the extent caused by the gross negligence or willful misconduct of the UCSF. To the extent allowable under applicable laws, Institution agrees to indemnify, defend and hold harmless UCSF and its trustees, officers, staff, representatives and agents against all damages, expenses (including without limitation legal expenses), claims, demands, suits or other actions arising from Data Recipient’s acceptance, storage, use and disposal of the Data Set, but only in proportion to and to the extent such are caused by or result from the negligent or intentional acts or omissions of Data Recipient, Other Users, or Institution’s officers, agents or employees. 7. Assignment. This agreement is not assignable by Institution. 8. Term and Termination The term of this agreement shall commence on the Effective Date and shall continue for as long as the Data Recipient retains the Data Set, unless terminated sooner as set forth in this Agreement. The Data Recipient may terminate this Agreement at any time by notifying the UCSF Principal Investigator. UCSF may terminate this Agreement at any time upon breach of this Agreement by Data Recipient. In the event of termination, Data Recipient shall destroy the Data Set and all copies in its possession, including all documents created by Data Recipient where portions of the Data Set are reproduced. 9. Agreement If Data Recipient agrees to the above terms and conditions for access to the Data Set, please so indicate by returning one copy of this Agreement signed by a duly authorized representative of Institution and by Principal Investigator. Upon receipt of signed Agreement by Institution and Principal Investigator, access to the Data Set will be provided to the Principal Investigator. Principal Investigator agrees to distribute a copy of this agreement and explain its content to any Other Users, and will ensure that they acknowledge their obligations to abide by the terms of this Agreement in their use of the Data Set. Agreed: __________________________ __________________________ __________________ Signature for Institution Print Name Date __________________________ Title for Official Read and Understood by: __________________________ __________________________ __________________ Signature of Principal Investigator Print Name Date

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001902240 bam 11.4 GB
EGAF00001902241 bam 21.1 GB
EGAF00001902242 bam 16.2 GB
EGAF00001902243 bam 19.2 GB
EGAF00001902244 bam 10.3 GB
EGAF00001902245 bam 23.8 GB
EGAF00001902246 bam 13.1 GB
EGAF00001902247 bam 20.2 GB
EGAF00001902248 bam 17.2 GB
EGAF00001902249 bam 33.7 GB
EGAF00001902250 bam 12.7 GB
EGAF00001902251 bam 15.6 GB
EGAF00001902252 bam 10.7 GB
EGAF00001902253 bam 24.4 GB
EGAF00001902254 bam 15.5 GB
EGAF00001902255 bam 26.6 GB
EGAF00001902256 bam 10.3 GB
EGAF00001902257 bam 16.7 GB
EGAF00001902258 bam 17.4 GB
EGAF00001902259 bam 25.2 GB
EGAF00001902260 bam 23.1 GB
EGAF00001902261 bam 19.1 GB
EGAF00001902262 bam 22.6 GB
EGAF00001902263 bam 23.0 GB
EGAF00001902264 bam 29.1 GB
EGAF00001902265 bam 13.4 GB
EGAF00001902266 bam 18.3 GB
EGAF00001902267 bam 11.6 GB
EGAF00001902268 bam 22.1 GB
EGAF00001902269 bam 11.8 GB
EGAF00001902270 bam 21.2 GB
EGAF00001902271 bam 13.2 GB
EGAF00001902272 bam 17.7 GB
EGAF00001902273 bam 14.6 GB
EGAF00001902274 bam 32.9 GB
EGAF00001902275 bam 12.3 GB
EGAF00001902276 bam 22.3 GB
EGAF00001902277 bam 11.5 GB
EGAF00001902278 bam 22.2 GB
EGAF00001902279 bam 12.2 GB
EGAF00001902280 bam 30.9 GB
EGAF00001902281 bam 13.5 GB
EGAF00001902282 bam 16.2 GB
EGAF00001902283 bam 9.3 GB
EGAF00001902284 bam 20.4 GB
EGAF00001902285 bam 10.2 GB
EGAF00001902286 bam 26.3 GB
EGAF00001902287 bam 13.3 GB
EGAF00001902288 bam 27.3 GB
EGAF00001902289 bam 22.0 GB
EGAF00001902290 bam 22.9 GB
EGAF00001902291 bam 23.5 GB
EGAF00001902292 bam 18.3 GB
EGAF00001902303 bam 20.5 GB
EGAF00001902304 bam 27.0 GB
EGAF00001902305 bam 22.4 GB
EGAF00001902306 bam 24.1 GB
EGAF00001902307 bam 16.6 GB
EGAF00001902308 bam 6.2 GB
EGAF00001902309 bam 17.8 GB
EGAF00001902310 bam 10.8 GB
EGAF00001902311 bam 17.6 GB
EGAF00001902312 bam 9.7 GB
EGAF00001902313 bam 14.8 GB
EGAF00001902314 bam 11.7 GB
EGAF00001902315 bam 15.4 GB
EGAF00001902316 bam 11.6 GB
EGAF00001902317 bam 18.9 GB
EGAF00001902318 bam 11.8 GB
EGAF00001902319 bam 23.8 GB
EGAF00001902320 bam 12.6 GB
EGAF00001902321 bam 19.6 GB
EGAF00001902322 bam 13.8 GB
EGAF00001902323 bam 30.1 GB
EGAF00001902324 bam 13.0 GB
EGAF00001902325 bam 19.0 GB
EGAF00001902326 bam 15.4 GB
EGAF00001902327 bam 21.3 GB
EGAF00001902328 bam 9.2 GB
EGAF00001902329 bam 29.0 GB
80 Files (1.5 TB)