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By S. Thorek. Howard Payne University.

Unlike colon cancers in the general popu- lation generic 50mg toprol xl with mastercard, the tumors due to Muir-Torre syndrome are more frequently seen around or closer to the right side of an of individuals with Muir-Torre syndrome have a one in area of the colon known as the splenic flexure. At least 250 cases of Muir-Torre syndrome, specifi- Symptoms of colorectal cancer or polyps may cally, have been reported. It is estimated that between one include: in 200 to one in 2,000 people in Western countries carry • red blood in stool an alteration in the genes associated with HNPCC but the rate of Muir-Torre syndrome itself has not been clarified. The average age at time of diag- • long-term constipation nosis of the syndrome is around 55 years. Other cancers that have been seen with Muir- bumps on the skin of the head or neck but can be found Torre syndrome include breast cancers, blood cancers, on the trunk and other areas. The classification of the dif- head and neck cancers, and cancers of the small intestine. Keratoacanthomas are skin-colored or reddish, Diagnosis firm skin nodules that are distinct from sebaceous neo- Since not all families with the features of Muir-Torre plasms upon microscopic examination. The skin findings syndrome have identifiable mismatch repair gene alter- in Muir-Torre syndrome can either appear before, during, ations, diagnosis is based mainly on the presence of the or after the development of the internal cancer. Muir-Torre syndrome is defined by the presence of certain types of sebaceous Internal findings neoplasms (sebaceous adenomas, sebaceous epithe- Internal organ cancers are common in Muir-Torre liomas, sebaceous carcinomas and keratoacanthomas syndrome. Several individuals with Muir-Torre syn- with sebaceous differentiation) and at least one internal GALE ENCYCLOPEDIA OF GENETIC DISORDERS 759 organ cancer in the same individual. Muir-Torre syn- ORGANIZATIONS drome may also be diagnosed if an individual has multi- American Cancer Society. Screening recommendations have been proposed for Kristin Baker Niendorf, MS, CGC individuals with Muir-Torre or at-risk relatives. In addi- tion to regular screening for the skin findings, screening for internal cancers may be considered. The effectiveness of screening for individuals with or at risk for Muir-Torre syndrome has yet to be proven.

Bile con- other breast cancer susceptibility genes that are still tains a number of different substances buy generic toprol xl 100 mg, including unknown (such as BRCA3). BRCA1 and BRCA2 are thought to function as “tumor-suppressor genes,” meaning that their normal role Breast self-exam (BSE)—Examination by an indi- is to prevent tumors from forming. Alterations in that is sometimes high when ovarian cancer is tumor-suppressor genes, such as BRCA1 and BRCA2, present. A blood sample can determine the level of would naturally lead to an increased risk of developing CA-125 present. Clinical breast exam (CBE)—Examination of the There are rare, genetic cancer syndromes that may breasts, performed by a physician or nurse. As a group, these comprise less Malignant—A tumor growth that spreads to than 1% of all breast cancer diagnoses. These health problems can initially doses of x rays, in an attempt to visualize the inner appear unrelated, but may be caused by alterations in a breast tissue. As an example, Cowden syndrome typi- Metastasis—The spreading of cancer from the cally involves early-onset thyroid and breast cancers, as original site to other locations in the body. An individual with Cowden syndrome may have Multifocal breast cancer—Multiple primary can- all or some of these symptoms. Primary cancer—The first or original cancer site, Other known cancer syndromes are caused by specific before any metastasis. Most cases of breast cancer occur in A small proportion of breast cancers is caused by women past the age of 50, and more commonly in indi- inherited genetic alterations. The discovery of BRCA2 (location 13q12) As of 2000, the prevalence of BRCA alterations in followed shortly in 1995. Women with alterations in the general population is estimated to be between 1/500 these genes have an increased risk for breast and ovarian and 1/1,000. However, there are specific alterations that cancer, and men have an increased risk for prostate are commonly found in certain ethnic groups.