HOXB13 X285K variant is associated with clinical significance and early age at diagnosis in African American patients with prostate cancer

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Brother J Cancer. November 19, 2021. doi: 10.1038 / s41416-021-01622-4. Online ahead of print.


BACKGROUND: Recently, a new variant HOXB13 (X285K) was observed in men of African descent with prostate cancer (PCa) in Martinique. Little is known about this or other HOXB13 variants that may play a role in susceptibility to PCa in African American (AA) men.

METHODS: We sequenced HOXB13 in an AA population of 1048 men undergoing surgical treatment for PCa at Johns Hopkins Hospital.

RESULTS: Seven non-synonymous germline variants were observed in the patient population. While six of these variants were seen only once, X285K was found in eight patients. In a case-case analysis, we find that carriers of the latter variant are at increased risk of clinically significant CPa (carrier rate of 1.2% in Gleason score ≥7 CPa versus 0% in Gleason score

CONCLUSIONS: Although this variant is rare in the AA population (~ 0.2% MAF), its ancestry-specific occurrence and its apparent preferential association with the risk of the most aggressive disease at an early age underscore its potential translational as an important new marker of PCa sensitivity. in the high risk AA population.

PMID: 34799695 | DOI: 10.1038 / s41416-021-01622-4

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