Germline Mutations in HOXB13 and Prostate-Cancer Risk

• Published in: The New England journal of medicine Vol. 366; no. 2; pp. 141 - 149
• Main Authors: Ewing, Charles M, Ray, Anna M, Lange, Ethan M, Zuhlke, Kimberly A, Robbins, Christiane M, Tembe, Waibhav D, Wiley, Kathleen E, Isaacs, Sarah D, Isaacs, William B, Johng, Dorhyun, Wang, Yunfei, Bizon, Chris, Yan, Guifang, Gielzak, Marta, Partin, Alan W, Shanmugam, Vijayalakshmi, Izatt, Tyler, Sinari, Shripad, Craig, David W, Zheng, S. Lilly, Walsh, Patrick C, Montie, James E, Xu, Jianfeng, Carpten, John D, Cooney, Kathleen A
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 12.01.2012
• Subjects: Age; Biological and medical sciences; Chromosome 17; Chromosomes, Human, Pair 17; Deoxyribonucleic acid; DNA; DNA sequencing; Genealogy; General aspects; Genetic Linkage; Genetics; Germ-Line Mutation; Gynecology. Andrology. Obstetrics; High-Throughput Nucleotide Sequencing; Homeobox; Homeodomain Proteins - genetics; Humans; Male; Male genital diseases; Medical research; Medical sciences; Men; Middle Aged; Mutation; Nephrology. Urinary tract diseases; Pedigree; Prostate - pathology; Prostate cancer; Prostatic Neoplasms - genetics; Prostatic Neoplasms - pathology; Review boards; Risk assessment; Sequence Analysis, DNA; Tumors; Tumors of the urinary system; Urinary tract. Prostate gland; United States > US; Michigan; Medicine; Urinary system disease; Prostate disease; Germ line; Risk factor; Genetics; Risk; Malignant tumor; Mutation; Male genital diseases; Prostate cancer; Cancer
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa1110000

Prostate cancer runs in families. However, the genes that affect the incidence remain largely undefined. The authors have identified a rare germline variant of a homeobox gene, HOXB13, in four families with a history of prostate cancer. Prostate cancer is the most common noncutaneous cancer diagnosed in men in the United States, with more than 240,000 new cases expected in 2011. 1 Despite the demonstration of a strong familial component, identification of the genetic basis for hereditary prostate cancer has been challenging. Linkage studies of families with hereditary prostate cancer have provided inconsistent results. 2 In contrast, genomewide association studies have led to the identification of more than 30 single-nucleotide polymorphisms (SNPs) that are consistently associated with prostate cancer. 3 However, the magnitude of risk elevation attributed to each individual SNP is low, with an increased elevation in risk by . . .