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