COSMIC announces v100, with more than 300,000 new gene variants

The Catalogue of Somatic Mutations in Cancer, or COSMIC, has launched its 100th version, parent institution Wellcome Sanger Institute announced May 21. The latest edition of the precision medicine and research resource contains more than 307,000 new gene variants, bringing its total to more than 24 million. 

“For 20 years, COSMIC’s mission has been to develop and maintain gold-standard mutation data resources and enable rapid access for scientists and clinicians to advance knowledge and improve cancer outcomes,” Jon Teague, director of COSMIC, said in a press release. “With the phenomenal increase of available genomic biodata, our mission has never been more important to help ensure big data benefit human health.” 

Many of the new mutations added to COSMIC involve the BRAF and RAS genes, key players in signaling pathways implicated in several different types of cancer. These and other mutations were identified through analysis of 4,482 tumor samples. The data are curated using both semiautomatic and manual processes and are analyzed using several different methods, as COSMIC’s website explains. 

Drug developers use COSMIC to identify potential treatment targets and study known ones. While its core database is available to academic institutions to download for free, pharmaceutical companies pay for access according to the size of their firms. In 2021, the company entered into a long-term commercial distribution partnership with Qiagen.