GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa). The study includes a cohort of gene mutation carriers with PCa matched with a control group of men with PCa who are known not to carry a mutation in the same gene. Clinical data regarding treatment and patient outcome will be collected retrospectively and prospectively. Archived tumour samples will also be collected for tumour profiling. A blood or saliva sample will be taken, if the participant consents to this part of the study, for genetic profiling to investigate any association of other inherited factors with PCa outcomes. Information obtained from this study will be of critical importance to support clinical trials investigating the most appropriate management of PCa in this group of patients at increased risk of prostate cancer.

NCT02705846

Conditions

1. Prostate Cancer

MeSH:Prostatic Neoplasms

HPO:Prostate cancer Prostate neoplasm

HOXB13 Recently, a rare, recurrent mutation (G84E) in HOXB13, in the 17q21-12 region was reported to be associated with prostate cancer risk. --- G84E ---

The HOXB13 G84E mutation is found in up to 5% of PCa families, mainly in Northern Europe. --- G84E ---

Another group undertook a systematic literature review of the Germline Homeobox B13 G84E mutation studies in European Descendants. --- G84E ---

A meta-analysis of 24213 cases of PCa and 73631 controls was conducted and confirmed that HOXB13 G84E mutation is associated with an increased prostate cancer risk with an Odds ratio of 4.07 (95%CI:3.05-5.45). --- G84E ---

The G84E mutation was associated with early onset PCa with an Odds Ratio of 10.11 for early onset PCa and 3.63 for late onset PCa. --- G84E ---

When assessing the aggressiveness of the disease, the G84E mutation appeared not to predict a more aggressive presentation. --- G84E ---