OSBPL3

Overview

OSBPL3 (Oxysterol Binding Protein Like 3) is a lipid-transfer protein involved in intracellular sterol transport and membrane trafficking. In cancer genomics, OSBPL3 has been identified as part of a metastasis-associated mutational signature in hormone receptor-positive, HER2-negative breast cancer.

Alterations observed in the corpus

• Member of an eight-gene metastasis-enrichment signature (ESR1, FSIP2, AGRN, FRAS1, IGFN1, EDC4, OSBPL3, PALB2) that carries a 2-fold higher death hazard in HR+/HER2− metastatic breast cancer vs early breast cancer; authors note the finding requires validation independent of mutational load PMID:28027327

Cancer types (linked)

• Breast cancer (BRCA): Implicated via metastasis-enrichment signature in HR+/HER2− metastatic breast cancer (n=216 mBC cohort) PMID:28027327

Co-occurrence and mutual exclusivity

• Co-occurs with ESR1, PALB2, and six other genes in an 8-gene metastatic-enrichment signature in HR+/HER2− breast cancer PMID:28027327

Therapeutic relevance

• No direct therapeutic targeting reported in this corpus.

Open questions

• The survival association with the 8-gene metastatic signature (including OSBPL3) was not corrected for mutational load or signature contribution, limiting causal inference PMID:28027327

Sources

• PMID:28027327

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