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 ~19808
variant classifications and
~1.6 million variants found
across 5320 individuals.
SpadaHC is the result of a nationwide effort led by CIBERONC (CIBER of Cancer) in collaboration with ICO-IDIBELL, the Spanish Society of Human Genetics (AEGH), the Spanish Society of Medical Oncology (SEOM) and 29 Spanish centers. For citations and further details, 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.
SpadaHC is the result of a nationwide effort led by CIBERONC (CIBER of Cancer) in collaboration with ICO-IDIBELL, the Spanish Society of Human Genetics (AEGH), the Spanish Society of Medical Oncology (SEOM) and 29 Spanish centers. For citations and further details, 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.