CanVaS

CanVaS documents and annotates germline genetic variation in Greek cancer patients to provide population-specific allele frequencies, functional annotations of rare variants across cancer susceptibility genes, and linked clinical, familial and phenotypic data for research.

Key Features:

• Extensive Dataset: Contains germline genetic data from 7,363 individuals with personal or familial histories of malignancy.
• Variant Annotation: Documents approximately 24,000 functionally annotated rare variants across 97 established or suspected cancer susceptibility genes.
• Comprehensive Data Inclusion: Provides for each variant Greek-specific allele frequency, clinical significance interpretation, anonymized family and segregation information, and phenotypic traits of carriers.
• Geographic Distribution Analysis: Includes geographic distribution of variants across Greece to support analyses of population isolates.
• Data Model and Interoperability: Implements the Leiden Open Variation Database (LOVD) schema for data representation and integration with external databases.

Scientific Applications:

• Population-Specific Insights: Enables comparisons between Greek subpopulations and other genetic resources to inform population-specific research and clinical decision-making.
• Integration with Global Databases: Facilitates interconnection with central and international variant databases via the LOVD schema to support national and international cancer genomics research.

Methodology:

Adopts the Leiden Open Variation Database (LOVD) schema for data representation and interconnection.