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Although somatic mutations are the main contributor to cancer, underlyinggermline alterations may increase the risk of cancer, mold the somaticalteration landscape and cooperate with acquired mutations to promote the tumoronset and/or maintenance. Therefore, both tumor genome and germline sequencedata have to be analyzed to have a more complete picture of the overall geneticfoundation of the disease. To reinforce such notion we quantitatively assessthe bias of restricting the analysis to somatic mutation data using mutationaldata from well-known cancer genes which displays both types of alterations,inherited and somatically acquired mutations.

Impact of germline susceptibility variants in cancer genetic studies