RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
A Orr-UrtregerHaim Matzkin

Abstract

Epidemiologic and genetic studies support the considerable effect of heritable factors on prostate tumorigenesis, although to date, no unequivocal susceptibility gene has been identified. The extensive study of RNASEL in prostate cancer patients worldwide has yielded conflicting results. We reevaluated the role of the RNASEL 471delAAAG Ashkenazi founder mutation in 1,642 Ashkenazi patients with prostate, bladder, breast/ovarian, and colon cancers; Ashkenazi controls; and in non-Ashkenazi prostate cancer patients and controls. The entire RNASEL coding sequence was also screened using denaturing high-performance liquid chromatography and multiplex ligation-dependent probe amplification for possible sequence variations or copy number changes in a population of prostate cancer patients. The 471delAAAG mutation was detected in 2.4% of the Ashkenazi prostate cancer patients; in 1.9% of patients with bladder, breast/ovarian, and colon cancers; and in 2.0% of the Ashkenazi controls. Seven additional variants were detected in RNASEL, including a novel potentially pathogenic splice site mutation, IVS5+1delG, although none were associated with increased prostate cancer risk. Multiplex ligation-dependent probe amplification analysis showed...Continue Reading

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Citations

Jul 14, 2007·Urologia Internationalis·Cezary CybulskiJan Lubiński
Sep 29, 2011·Molecular Neurodegeneration·Merav KedmiAvi Orr-Urtreger
Apr 9, 2011·Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia·Milan KralJan Bouchal
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