Somatic Integration of Germline Alterations in Cancer17,152 patients and 45 cancer types
High
Penetrance
37 Genes
Moderate
Penetrance
8 Genes
Low
Penetrance
2 Genes
Uncertain
Penetrance
128 Genes
Search Gene / Variant / Region
Examples: BRCA1, BRCA2 S1982Rfs (c.5946del), NF1 in Nerve Sheath Tumor, 17:41276045-41276046
The SIGNAL resource integrates germline and somatic alterations identified by clinical sequencing of active cancer patients. Provided here are pathogenic germline variants and their tumor-specific zygosity changes by gene, lineage, and cancer type in 17,152 prospectively sequenced cancer patients.
When using SignalDB, please cite Srinivasan et al., Nat Genet. 2021.