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Polygenic susceptibility to testicular cancer: implications for personalised health care.


ABSTRACT:

Background

The increasing incidence of testicular germ cell tumour (TGCT) combined with its strong heritable basis suggests that stratified screening for the early detection of TGCT may be clinically useful. We modelled the efficiency of such a personalised screening approach, based on genetic risk profiling in combination with other diagnostic tools.

Methods

We compared the number of cases potentially detectable in the population under a number of screening models. The polygenic risk scoring (PRS) model was assumed to have a log-normal relative risk distribution across the 19 currently known TGCT susceptibility variants. The diagnostic performance of testicular biopsy and non-invasive semen analysis was also assessed, within a simulated combined screening programme.

Resu

SUBMITTER: Litchfield K 

PROVIDER: S-EPMC4815881 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature