TTN
Overview
TTN (Titin) encodes the largest known human protein, a structural component of muscle sarcomeres. Due to its extreme gene length, TTN frequently appears as a recurrently mutated gene in cancer sequencing studies; however, most mutations are considered likely passenger events attributable to the large mutational target size rather than genuine driver alterations.
Alterations observed in the corpus
- 2 missense mutations identified in uveal melanoma (UM) WGS cohort (n=28); flagged as recurrent but without functional support; consistent with background mutation rate given TTN’s extreme gene length PMID:26683228
Cancer types (linked)
- UM: Recurrent missense mutations (2/28 samples) in uveal melanoma; no functional driver evidence PMID:26683228
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
- TTN mutations are frequently observed across cancer types due to its extreme gene length; distinguishing genuine driver mutations from passengers remains a challenge.
Sources
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