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Analysis of the gene coding for the BRCA2‐Interacting protein PALB2 in hereditary prostate cancer
Author(s) -
Tischkowitz Marc,
Sabbaghian Nelly,
Ray Anna M.,
Lange Ethan M.,
Foulkes William D.,
Cooney Kathleen A.
Publication year - 2008
Publication title -
the prostate
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.295
H-Index - 123
eISSN - 1097-0045
pISSN - 0270-4137
DOI - 10.1002/pros.20729
Subject(s) - palb2 , prostate cancer , proband , medicine , prostate , cancer , genetics , breast cancer , brca2 protein , mutation , male breast cancer , gene , oncology , cancer research , biology , germline mutation
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. Prostate 68: 675–678, 2008. © 2008 Wiley‐Liss, Inc.