COSMIC v98: Shining Light on Rare Skin Cancers


QIAGEN Digital Insights

COSMIC v98: Shining Light on Rare Skin Cancers

Skin cancer is one of the most common forms of cancer, with nearly 3 million people globally affected each year.* Of every 3 diagnosed cancers, 1 is a skin cancer.** While basal cell carcinoma, squamous cell carcinoma, and melanoma are the most common types, there are several rare skin cancers that are often underrepresented in scientific literature.

The latest Catalogue of Somatic Mutations in Cancer (COSMIC) release, v98, focuses on rarer skin cancers like adnexal tumors, Merkel cell carcinoma, Kaposi sarcoma, dermatofibrosarcoma protuberans, and extramammary Paget’s disease—providing deeper insight into the somatic mutations behind them and their clinical implications.


Why it matters

The inclusion of these rare skin tumors in COSMIC will allow clinicians to better understand the molecular mechanisms behind these cancers, which in turn aids in more accurate diagnosis and personalized treatment planning. Now, researchers and drug developers have more resources to help identify potential drug targets and develop new precision therapies for rare skin cancers.

In COSMIC v98, 776 new samples were curated from publications and 25,236 new variants were found in the rare skin tumors newly included. 17 new skin tumor types or subtypes were added to the histology classification system. Users can explore all of the variant data and sample metadata using the COSMIC Cancer Browser on the website. All the tumor types in COSMIC derive from samples that have been found to have somatic mutations in them.

The COSMIC v98 release marks a significant step forward in addressing the underrepresentation of rare skin cancers in scientific literature and databases.


What else is new in COSMIC v98?
  • 410,000 new genomic variants
  • 19 new systematic screen papers
  • 2 new, high-quality genes added to the Cancer Gene Census (NTRK2 and ASPM)
  • Fully manually-curated MUC6 cancer gene


Learn more about COSMIC here.



* World Health Organization. (2017, October 16.) Radiation: Ultraviolet (UV) radiation and skin cancer.

** Urban, K., Mehrmal, S., Uppal, P., Giesey, R. L., & Delost, G. R. (2021). The global burden of skin cancer: A longitudinal analysis from the Global Burden of Disease Study, 1990-2017. JAAD international2, 98–108.