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Germline BLM mutations and metastatic prostate cancer.

Elisa M LedetEmmanuel S AntonarakisWilliam B IsaacsTamara L LotanColin PritchardA Oliver Sartor
Published in: The Prostate (2019)
Truncating BLM germline mutations occur at a higher frequency in patients with advanced prostate cancer as compared to control populations. Though no biallelic loss of BLM was no noted in cancers, a surprising number of the BLM germline heterozygotes had pathogenic BRCA2 mutations in their tumor.
Keyphrases
  • prostate cancer
  • dna repair
  • radical prostatectomy
  • squamous cell carcinoma
  • dna damage
  • intellectual disability
  • autism spectrum disorder