Spanish variant database
for
hereditary cancer
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SpadaHC is a
database for sharing genetic variants in hereditary cancer genes and their interpretation
from Spanish genetic diagnostics laboratories and expert groups. The database also provides population
frequencies of variants in Spanish
individuals based on their clinical suspicion of cancer predisposition.
Current database version stores 17020 variant classifications and
~1.2 million variants found across 4546 individuals.
The ultimate purpose of SpadaHC is to offer a useful resource for the research community and clinical genetic laboratories to improve the knowledge of the genetic basis of hereditary cancer and, therefore, to improve diagnosis, risk assessment, prevention, and cancer treatment of carriers and their families. This resource is the result of a coodinated effort involving CIBERONC (CIBER of Cancer) in collaboration with IDIBELL, ICO and the contribution of multiple Spanish centers that submit data to the database. The SpadaHC paper can be accessed here.
The ultimate purpose of SpadaHC is to offer a useful resource for the research community and clinical genetic laboratories to improve the knowledge of the genetic basis of hereditary cancer and, therefore, to improve diagnosis, risk assessment, prevention, and cancer treatment of carriers and their families. This resource is the result of a coodinated effort involving CIBERONC (CIBER of Cancer) in collaboration with IDIBELL, ICO and the contribution of multiple Spanish centers that submit data to the database. The SpadaHC paper can be accessed here.