Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.


Journal Article

BACKGROUND: The genetic basis of susceptibility to prostate cancer (PRCA) remains elusive. Mutations in BRCA2 have been associated with increased prostate cancer risk and account for around 2% of young onset (<56 years) prostate cancer cases. PALB2 is a recently identified breast cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate PRCA susceptibility gene. METHODS: We sequenced PALB2 in probands from 95 PRCA families, 77 of which had two or more cases of early onset PRCA (age at diagnosis <55 years), and the remaining 18 had one case of early onset PRCA and five or more total cases of PRCA. RESULTS: Two previously unreported variants, K18R and V925L were identified, neither of which is in a known PALB2 functional domain and both of which are unlikely to be pathogenic. No truncating mutations were identified. CONCLUSIONS: These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in hereditary prostate cancer.

Full Text

Duke Authors

Cited Authors

  • Tischkowitz, M; Sabbaghian, N; Ray, AM; Lange, EM; Foulkes, WD; Cooney, KA

Published Date

  • May 1, 2008

Published In

Volume / Issue

  • 68 / 6

Start / End Page

  • 675 - 678

PubMed ID

  • 18288683

Pubmed Central ID

  • 18288683

International Standard Serial Number (ISSN)

  • 0270-4137

Digital Object Identifier (DOI)

  • 10.1002/pros.20729


  • eng

Conference Location

  • United States