ASPSCR1 is altered in 0.11% of all cancers with alveolar soft part sarcoma, translocation-associated renal cell carcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, and unknown having the greatest prevalence of alterations .
The most common alterations in ASPSCR1 are ASPSCR1-TFE3 Fusion (0.05%), ASPSCR1 D319_V323dup (0.49%), ASPSCR1 R251S (0.64%), ASPSCR1 R387L (0.44%), and ASPSCR1 T146M (0.44%) .
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.