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Chromosome 8 Haplotypes: Clinical Predictors of Risk for Hereditary Prostate Cancer?

By: Joshua D. Madera
Posted: Friday, May 29, 2020

Analysis of chromosome 8 has revealed specific haplotypes associated with hereditary prostate cancer, according to a population-based study of approximately 5,000 men published in Nature Communications. According to Jeffrey R. Smith, MD, PhD, of Vanderbilt University Medical Center, Nashville, and colleagues, new methods of isolating genetic variants may help to identify those at increased risk for hereditary prostate cancer.

“We’ve taken a comprehensive shotgun approach to investigate data at this (chromosome) location and have been able to deconstruct how it contributes to risk, including which of the haplotypes impact age of onset and also aggressiveness,” explained Dr. Smith in a Vanderbilt press release.

From 2003 to 2009, 5,042 patients with (n = 2,836) and without (n = 2,206) hereditary prostate cancer were enrolled in the study. Patients were recruited from the Nashville Familial Prostate Cancer Study and the International Consortium for Prostate Cancer Genetics. Dr. Smith and colleagues aimed to compare patients with and without a strong family history of hereditary prostate cancer. They examined haplotypes on chromosome 8, through imputation methods, due to its association with prostate and various other cancers.

The investigators found 183 variants on chromosome 8 of genome-wide importance linked to hereditary prostate cancer, 6 of which were newly identified. These findings explained 9% of prostate cancer inheritance. Interestingly, some variants were identified in patients without a family history of hereditary prostate cancer. Additionally, they isolated eight independent sentinel variants that assist in risk prediction on a single locus, 8.24.

Disclosure: For full disclosures of the authors, visit nature.com.



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