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Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1 , PTEN , and KLF6
Author(s) -
BarShira Anat,
Matarasso Noa,
Rosner Serena,
Bercovich Dani,
Matzkin Haim,
OrrUrtreger Avi
Publication year - 2006
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.20425
Subject(s) - prostate cancer , pten , germline , carcinogenesis , prostate , germline mutation , medicine , cancer , allele , oncology , missense mutation , population , cancer research , mutation , genetics , biology , gene , apoptosis , environmental health , pi3k/akt/mtor pathway
BACKGROUND MSR1 , PTEN , and KLF6 have been implicated as candidate susceptibility genes for prostate tumorigenesis. METHODS Three hundred Jewish prostate cancer patients were screened for alterations in these genes. RESULTS MSR1 was conserved in all patients. PTEN screening revealed a novel missense mutation and a silent change. Five KLF6 alterations were detected in 17 patients, including Q160X, the only nonsense KLF6 germline mutation described to date in a cancer patient. The KLF6 IVS1‐27G>A polymorphism, recently associated with prostate cancer risk, was detected in 11.9% of the patients and 17.3% of the controls ( P = 0.043). IVS1‐27A allele frequency was significantly lower in prostate cancer patients ( P = 0.030), specifically in Ashkenazi patients ( P = 0.047) compared to controls. CONCLUSIONS We found no evidence that MSR1 and PTEN germline mutations are associated with prostate cancer risk in Jews. The negative association between KLF6 IVS1‐27A and prostate cancer risk supports a population‐specific effect of susceptibility alleles in prostate tumorigenesis. Prostate 66: 1052–1060, 2006. © 2006 Wiley‐Liss, Inc.