Collagen, type1, alpha 1 (COL1A1) is a gene that encodes a protein that functions as the pro-alpha 1 chains of type 1 collagen. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
COL1A1 is altered in 0.36% of all cancers with conventional glioblastoma multiforme, melanoma, anaplastic astrocytoma, dermatofibrosarcoma protuberans, and colorectal adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in COL1A1 are COL1A1-PDGFB Fusion (0.02%), COL1A1 P807A (0.70%), COL1A1 D1347N (0.18%), COL1A1 E354D (0.18%), and COL1A1 P216L (0.13%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.