HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
作者： Jianfeng Xu , , Ethan M. Lange , Lingyi Lu , Siqun L. Zheng
DOI: 10.1007/S00439-012-1229-4
关键词:
摘要: Prostate cancer has a strong familial component but uncovering the molecular basis for inherited susceptibility this disease been challenging. Recently, rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate risk. Confirmation and characterization of finding is necessary potentially translate information clinic. To examine large international sample families, we genotyped 14 other SNPs or flanking 2,443 families recruited by International Consortium Cancer Genetics (ICPCG). At least one carrier found 112 (4.6 %), all European descent. Within G84E more common men diagnosis (194 382, 51 %) than those without (42 137, 30 %), P = 9.9 × 10−8 [odds ratio 4.42 (95 % confidence interval 2.56–7.64)]. A family-based association test significantly over-transmitted from parents affected offspring (P = 6.5 × 10−6). Analysis markers indicates that it resides same haplotype 95 % carriers, consistent founder effect. Clinical characteristics cancers carriers included features high-risk disease. These findings demonstrate present ~5 % predominantly descent, confirm its While future studies are needed fully define clinical utility observation, allele others like could form early, targeted screening at elevated risk common, clinically heterogeneous cancer. Electronic supplementary material The online version article (doi:10.1007/s00439-012-1229-4) contains material, which available authorized users.
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