Prostate cancer risk variants of the HOXB genetic locus

  title={Prostate cancer risk variants of the HOXB genetic locus},
  author={William D. Dupont and Joan P. Breyer and Sp Johnson and W. Dale Plummer and Jeffrey R. Smith},
  journal={Scientific Reports},
The G84E germline mutation of HOXB13 predisposes to prostate cancer and is clinically tested for familial cancer care. We investigated the HOXB locus to define a potentially broader contribution to prostate cancer heritability. We sought HOXB locus germline variants altering prostate cancer risk in three European-ancestry case–control study populations (combined 7812 cases and 5047 controls): the International Consortium for Prostate Cancer Genetics Study; the Nashville Familial Prostate Cancer… 

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Confirmation of the HOXB13 G84E Germline Mutation in Familial Prostate Cancer

The germline mutation G84E of HOXB13 is a rare but recurrent mutation associated with elevated risk of prostate cancer in men of European descent, with an effect size that is greater than observed for previously validated risk variants of genome wide association studies.

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HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)

It is demonstrated that the HOXB13 G84E mutation is present in ~5 % of prostate cancer families, predominantly of European descent, and this allele and others like it could form the basis for early, targeted screening of men at elevated risk for this common, clinically heterogeneous cancer.

Germline mutations in HOXB13 and prostate-cancer risk.

The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer, and this finding has implications for prostate-cancer risk assessment and may provide new mechanistic insights into this common cancer.

Synergistic Interaction of HOXB13 and CIP2A Predisposes to Aggressive Prostate Cancer

Simultaneous presence of HOXB13 T and CIP2A T alleles confers for high prostate cancer risk and aggressiveness of disease, earlier biochemical relapse, and lower disease-specific life expectancy.

Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes.

The polygenic PrCa risk score (PR score), calculated using the 71 known single-nucleotide polymorphisms (SNPs) associated with PrCa and the HOXB13 G84E variant, found that this rare variant explains ∼1% of the familial risk of PrCa in the UK population.

HOXB13 Mutation and Prostate Cancer: Studies of Siblings and Aggressive Disease

The HOXB13 mutation substantially increases risk of early onset, familial prostate cancer in European-American men and testing for the G84E mutation in men with a positive family history may help distinguish those who merit more regular screening for prostate cancer.

A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer

The haplotype extending from rs5907859 to rs1493189 is concordant with a prior study of the region within the Finnish founder population, and warrants further independent investigation.