A personalised approach to prostate cancer screening based on genotyping of risk founder alleles.

ABSTRACT:

Background

To evaluate whether genotyping for 18 prostate cancer founder variants is helpful in identifying high-risk individuals and for determining optimal screening regimens.

Methods

A serum PSA level was measured and a digital rectal examination (DRE) was performed on 2907 unaffected men aged 40-90. Three hundred and twenty-three men with an elevated PSA (≥4 ng ml⁻¹) or an abnormal DRE underwent a prostate biopsy. All men were genotyped for three founder alleles in BRCA1 (5382insC, 4153delA and C61G), for four alleles in CHEK2 (1100delC, IVS2+1G>A, del5395 and I157T), for one allele in NBS1 (657del5), for one allele in HOXB13 (G84E), and for nine low-risk single-nucleotide polymorphisms (SNPs).

Results

On the basis of an elevated PSA or an abnormal DRE, prostate c

SUBMITTER: Cybulski C 

PROVIDER: S-EPMC3694242 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature