ALMS1

Overview

ALMS1 encodes a centrosome-associated protein whose germline loss causes Alström syndrome, a rare ciliopathy. In cancer genomics, ALMS1 appears in small cell lung cancer (SCLC) as part of a cluster of recurrently mutated centrosome-related genes, suggesting a role in chromosome segregation fidelity during SCLC pathogenesis.

Alterations observed in the corpus

  • Clustered mutations in centrosome-associated genes in SCLC (110-tumor WGS cohort); ALMS1 co-clustered with ASPM and PDE4DIP; functional role in cancer remains unclear and requires experimental validation PMID:26168399

Cancer types (linked)

  • SCLC: recurrently mutated centrosome-gene cluster; specific prevalence not individually quantified in the 110-tumor cohort PMID:26168399

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic associations identified in this corpus.

Open questions

  • Functional role of ALMS1 somatic mutations in SCLC is explicitly noted as unclear by George et al. 2015; experimental validation required PMID:26168399

Sources

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