RAD54L

Overview

RAD54L (RAD54 Like) encodes an ATP-dependent DNA helicase involved in homologous recombination-mediated DNA double-strand break repair. It is a member of the SWI2/SNF2 family of chromatin-remodelling helicases and is a key component of the homologous recombination (HR) pathway. Mutations in RAD54L have been observed at low frequency in advanced thyroid malignancies.

Alterations observed in the corpus

  • RAD54L observed as a low-frequency hit (>=2 ATC or >=3 PDTC) in a targeted-sequencing study of advanced thyroid cancers (PDTC and ATC). PMID:26878173

Cancer types (linked)

  • PDTC / ATC (Advanced Thyroid Cancer): Low-frequency somatic mutation identified in a cohort of 117 poorly differentiated and anaplastic thyroid tumours profiled with the MSK-IMPACT panel. PMID:26878173

Co-occurrence and mutual exclusivity

  • Reported alongside other low-frequency hits (DIS3, FAT1, POLE, RBM10, RECQL4, SF3B1) and RTK mutations in the same advanced thyroid cancer cohort; co-occurrence patterns not specifically characterised. PMID:26878173

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus. As a homologous recombination gene, RAD54L deficiency may confer sensitivity to PARP inhibitors or platinum agents, but this has not been tested in thyroid cancer.

Open questions

  • The functional consequence of RAD54L mutations in PDTC/ATC and whether they impair HR activity in thyroid tumour cells has not been demonstrated.

Sources

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