ASPM

Overview

ASPM (abnormal spindle microtubule assembly) encodes a centrosomal protein critical for mitotic spindle assembly and brain size determination. Germline loss-of-function causes primary microcephaly. In cancer, ASPM has been identified as part of a cluster of recurrently mutated centrosome-associated genes in small cell lung cancer (SCLC), though its functional contribution to tumorigenesis remains unclear.

Alterations observed in the corpus

  • Clustered mutations in centrosome-associated genes in SCLC (110-tumor WGS cohort); ASPM co-clustered with ALMS1 and PDE4DIP; biological role in SCLC explicitly noted as unclear by authors PMID:26168399

Cancer types (linked)

  • SCLC: part of centrosome-gene significantly mutated cluster; prevalence not individually quantified PMID:26168399

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic associations identified in this corpus.

Open questions

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

Sources

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