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2/27/2012
Family History of a Novel Gene Mutation Associated with Prostate Cancer.
Source: New England Journal of Medicine  
Date Added:2/9/2012 3:35:00 PM
Date to be Archived:2/27/2022

Prostate cancer is a form of cancer that develops in the prostate, a gland in the male reproductive system. Most prostate cancers are slow growing; however, there are cases of aggressive prostate cancers. The cancer cells may metastasize (spread) from the prostate to other parts of the body, particularly the bones and lymph nodes. Prostate cancer may cause difficulty urinating, urinary retention, problems during sexual intercourse, or erectile dysfunction. Other symptoms can potentially develop during later stages of the disease such as fatigue, nausea, weakness, back pain, swollen lymph nodes, discomfort in the perineum, hip pain, or weight loss. Blood may be present in the urine. Most prostatic cancers are detected in asymptomatic men who have an elevated PSA (Prostate Specific Antigen) level or a nodular or enlarged prostate at the time of examination.

A gene is the basic physical and functional unit of heredity passed from parent to offspring. Genes are made up of DNA and contains information to make proteins. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent and this is how height, hair color, skin color, and eye color are determined. Also, mental abilities and natural talents are from genes as well as susceptibility to acquire certain diseases.

Researchers at the Johns Hopkins School of Medicine and the James Buchanan Brady Urological Institute, Baltimore, USA investigated the relationship between family history of prostate cancer and the risk of prostate cancer. The scientists screened more than 200 genes in the 17q21-22 region by sequencing germline DNA from 94 unrelated patients with prostate cancer from families selected for linkage to the candidate region. They tested family members, additional case subjects, and control subjects to characterize the frequency of the identified mutations. The research team found that men with prostate cancer were 20 times more likely to carry this mutation than screened men without prostate cancer. The authors concluded “The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer. Although the variant accounts for a small fraction of all prostate cancers, this finding has implications for prostate-cancer risk assessment and may provide new mechanistic insights into this common cancer.”1

1 Ewing CM, Ray AM, Lange EM, et al. Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med. Jan2012;366(2):141-9.

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