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Report for Mutation G84E

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutation in Cancer Predisposition Genes

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 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 ---

Primary Outcomes

Description: Survival will be calculated from the date of PCa diagnosis until date of death from any cause or censored at the last follow-up

Measure: Cause Specific Survival (CSS) will be measured in men with prostate cancer who carry a rare germline mutation and compared to CSS in non-carriers

Time: 60 months

Secondary Outcomes

Description: Survival will be calculated from the date of PCa diagnosis until date of death from any cause or censored at the last follow-up

Measure: Biochemical progression free survival (bPFS) will be measured and compared between mutation carriers and non-carriers.

Time: 60 months

Description: Survival will be calculated from the date of PCa diagnosis until date of death from any cause or censored at the last follow-up

Measure: Metastasis free survival (MFS) after radical treatment will be measured and compared between mutation carriers and non-carriers.

Time: 60 months

Description: Survival will be calculated from the date of PCa diagnosis until date of death from any cause or censored at the last follow-up

Measure: Overall survival will be measured and compared between mutation carriers and non-carriers.

Time: 60 months


HPO Nodes


Prostate cancer
Genes 32
RNASEL TP53 RNF43 PTEN BARD1 RAD50 BRCA2 NBN BMPR1A BRCA1 NAB2 CDH1 RAD51C MXI1 PALB2 EPHB2 CHEK2 BRCA2 BRIP1 GREM1 MRE11 CHEK2 RAD51 ZFHX3 MAD1L1 TP53 RAD51D AR STAT6 PTEN APC KLF6