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Examples
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The primary cancer risk in nevoid basal cell carcinoma syndrome (NBCCS) is the development of one or more basal cell carcinomas (BCCs).
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In order to confirm on a molecular level that an individual has nevoid basal cell carcinoma syndrome (NBCCS), he or she can undergo the process of genetic testing:
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How do you diagnose nevoid basal cell carcinoma syndrome (NBCCS)?
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How does one test for nevoid basal cell carcinoma syndrome (NBCCS)?
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How is nevoid basal cell carcinoma syndrome (NBCCS) inherited?
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If an alteration in one PTCH1 gene copy is identified, the genetic counselor can next examine whether the alteration has been previously reported in other individuals with nevoid basal cell carcinoma syndrome (NBCCS).
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There is no current medical consensus regarding the optimal surveillance for the development of cancer in individuals with nevoid basal cell carcinoma syndrome (NBCCS).
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Jaw cysts, known as keratocysts, are a representative sign of nevoid basal cell carcinoma syndrome (NBCCS), and are found in 90 percent of affected individuals.
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No evidence for the effectiveness of regular neuroimaging exists, but frequent computer tomography (CT) imaging should be avoided because of risks associated with exposure to ionizing radiation in patients with nevoid basal cell carcinoma syndrome (NBCCS).
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Regardless of whether one decides to pursue testing for PTCH1 mutations, it is strongly recommended that an individual with nevoid basal cell carcinoma syndrome (NBCCS) consider the following evaluation and surveillance recommendations, which are listed on the www. genetests.org Web site.
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