RP1L1

Overview

RP1L1 (Retinitis Pigmentosa 1-Like 1) encodes a photoreceptor-associated protein. It was identified as a MutSigCV-significant gene in pancreatic ductal adenocarcinoma by whole-exome sequencing, though its functional role in PDA biology has not been established.

Alterations observed in the corpus

• Identified as a MutSigCV-significant recurrently mutated gene in pancreatic ductal adenocarcinoma (109-case cohort); functional role in PDA biology remains to be validated. PMID:25855536

Cancer types (linked)

• PAAD: MutSigCV-significant mutation; oncogenic vs. passenger status unresolved. PMID:25855536

Co-occurrence and mutual exclusivity

• No specific co-occurrence or mutual exclusivity patterns reported in the corpus.

Therapeutic relevance

• No therapeutic relevance established in the corpus.

Open questions

• Oncogenic vs. passenger status in PDA awaits orthogonal functional validation. PMID:25855536

Sources

• PMID:25855536

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