LRMDA
Overview
LRMDA (Leucine Rich Melanocyte Differentiation Associated) encodes a leucine-rich protein expressed in melanocytes. In cancer genomics, it has been identified as a recurrent translocation partner of HMGA1 and HMGA2 in endometrial polyps, contributing to the enhancer-hijacking mechanism that drives stromal overexpression of the HMGA proteins.
Alterations observed in the corpus
- Recurrent translocation partner of HMGA1 and HMGA2 in endometrial polyps (10q22.3 breakpoints); intragenic and downstream breakpoints observed; not considered a classical driver in this context but rather a structural partner facilitating enhancer-hijacking of the HMGA loci PMID:28445112
Cancer types (linked)
- UCEC / Endometrial Polyps: Recurrent HMGA1/HMGA2 translocation partner; contributes to the stromal-driven neoplasm mechanism by facilitating chromosomal rearrangements that upregulate HMGA expression PMID:28445112
Co-occurrence and mutual exclusivity
- Co-occurs as a structural rearrangement partner alongside RAD51B and TRAF3IP2 as the most common HMGA1/HMGA2 translocation partners in endometrial polyps PMID:28445112
Therapeutic relevance
- No therapeutic targeting of LRMDA reported in this corpus.
Open questions
- Whether LRMDA locus breakpoints have functional consequences beyond facilitating HMGA rearrangements is unknown PMID:28445112
Sources
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