BLM
Overview
BLM encodes the Bloom syndrome RecQ helicase, a DNA repair protein critical for maintaining genomic stability by resolving Holliday junctions and stalled replication forks via homologous recombination. Biallelic loss-of-function variants cause Bloom syndrome, characterized by genomic instability and markedly elevated cancer predisposition. Monoallelic pLoF variants have been observed in cancer predisposition studies, though their penetrance as single-allele carriers remains under investigation.
Alterations observed in the corpus
- One pLoF BLM LP/PV was identified in a pediatric cancer predisposition cohort (n=372); burden test non-significant (OR=1.7, p=0.450). PMID:29489754
Cancer types (linked)
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
- Whether monoallelic pLoF BLM variants act as low-penetrance cancer predisposition alleles in pediatric oncology settings remains unresolved. PMID:29489754
Sources
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