BRIP1/FANCJ Gene Mutation and Prostate Cancer Risk
Author Information
Author(s): Zsofia Kote-Jarai, Jugurnauth S, Mulholland S, Leongamornlert D A, Guy M, Edwards S, Tymrakiewitcz M, O'Brien L, Hall A, Wilkinson R, Al Olama A A, Morrison J, Muir K, Neal D, Donovan J, Hamdy F, Easton D F, Eeles R
Primary Institution: The Institute of Cancer Research
Hypothesis
Does a recurrent truncating mutation in the BRIP1/FANCJ gene increase susceptibility to prostate cancer?
Conclusion
The study suggests that truncating mutations in the BRIP1/FANCJ gene may increase the risk of prostate cancer.
Supporting Evidence
- 4 out of 2714 prostate cancer cases had the R798X mutation.
- 2 out of 641 familial cases and 2 out of 2073 young-onset cases had the mutation.
- One R798X sequence alteration was found in 2045 controls.
Takeaway
Some people have a gene change that might make them more likely to get prostate cancer, and scientists are trying to understand how this works.
Methodology
The study involved sequencing the BRIP1/FANCJ gene in prostate cancer cases and controls, and analyzing SNPs for associations with cancer risk.
Limitations
The study's findings need to be confirmed in larger case-control series.
Participant Demographics
The study included familial and young-onset prostate cancer cases, primarily Caucasian men.
Statistical Information
P-Value
0.04
Confidence Interval
95% CI 0.25–23.4
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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