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CanVaS: Documenting the genetic variation spectrum of Greek cancer patients
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  • Despoina Kalfakakou,
  • Florentia Fostira,
  • Athanasios Papathanasiou,
  • Paraskevi Apostolou,
  • Vasiliki Dellatola,
  • Ioanna Gavra,
  • Ioannis Vlachos,
  • Zacharias Scouras,
  • Eleni Drosopoulou,
  • Drakoulis Yannoukakos,
  • Irene Konstantopoulou
Despoina Kalfakakou
Aristotle University of Thessaloniki
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Florentia Fostira
National Centre for Scientific Research-Demokritos
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Athanasios Papathanasiou
National Centre for Scientific Research-Demokritos
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Paraskevi Apostolou
National Centre for Scientific Research-Demokritos
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Vasiliki Dellatola
National Centre for Scientific Research-Demokritos
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Ioanna Gavra
National Centre for Scientific Research-Demokritos
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Ioannis Vlachos
Beth Israel Deaconess Medical Center / Harvard Medical School Program in Placebo Studies and the Therapeutic Encounter
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Zacharias Scouras
Aristotle University of Thessaloniki
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Eleni Drosopoulou
Aristotle University of Thessaloniki
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Drakoulis Yannoukakos
National Centre for Scientific Research-Demokritos
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Irene Konstantopoulou
National Centre for Scientific Research-Demokritos
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Abstract

National genetic variation registries vastly increase the level of detail for the relevant population, while directly affecting patient management. Herein, we report CanVaS, a Cancer Variation reSource aiming to document the genetic variation of cancer patients in Greece. CanVaS comprises germline genetic data from 7,363 Greek individuals with a personal and/or family history of malignancy. The dataset incorporates ~24,000 functionally annotated rare variants in 97 established or suspected cancer susceptibility genes. For each variant, allele frequency for the Greek population, interpretation for clinical significance, anonymized family and segregation information, as well as phenotypic traits of the carriers, are included. Moreover, information on the geographic distribution of the variants across the country are provided, enabling the study of Greek population isolates. Direct comparisons between Greek (sub)populations with relevant genetic resources is supported, allowing fine-grain localized adjustment of guidelines and clinical decision-making. Most importantly, anonymized data are available for download, while the Leiden Open Variation Database schema is adopted, enabling integration/interconnection with central resources. CanVaS could become a stepping-stone for a countrywide effort to characterize the cancer genetic variation landscape, concurrently supporting national and international cancer research. The database can be accessed at: http://ithaka.rrp.demokritos.gr/CanVaS

Peer review status:ACCEPTED

13 Mar 2021Submitted to Human Mutation
15 Mar 2021Submission Checks Completed
15 Mar 2021Assigned to Editor
26 Mar 2021Reviewer(s) Assigned
28 Apr 2021Review(s) Completed, Editorial Evaluation Pending
05 May 2021Editorial Decision: Revise Minor
13 May 20211st Revision Received
14 May 2021Submission Checks Completed
14 May 2021Assigned to Editor
17 May 2021Reviewer(s) Assigned
27 May 2021Review(s) Completed, Editorial Evaluation Pending
15 Jun 2021Editorial Decision: Accept