By Philip H. Gordon

Colorectal melanoma is the second-leading explanation for cancer-related demise within the Western global. This moment version analyzes the genetics, mechanisms, and improvement of colorectal carcinoma and offers the newest learn and proposals at the detection, therapy, and prevention of malignancies of the colon, rectum, and anus.

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Implications of a ‘‘Negative Test’’ Result versus ‘‘No Mutation Detected’’ Result (246) A negative test result is given if the patient does not carry the mutation that is known to exist in their family. In this instance, family members are not at increased risk for developing colorectal carcinoma compared with the general population and should follow guidelines for carcinoma surveillance for that group. If the patient is affected with FAP and complete coding sequence analysis of the APC gene fails to identify a mutation, this could mean that the APC gene is not responsible for the patient’s diagnosis.

Desmoid reaction or mesenteric fibromatosis is precursor lesion for subsequent desmoid formation. However, the risk for progression in any individual case is likely to be small (188). Phillips (189) recommended computed tomography (CT) scan of any FAP patients before planned second major surgery, whether for pouch conversion or management of duodenal polyposis. The most common symptom in patients with intraabdominal desmoids is a painful abdominal mass (50%). The rest have a painless mass or no palpable mass.

In the majority of cases, mutation will be found in the APC gene that can be further characterized by DNA sequencing. Again, a ‘‘mutationpositive’’ result is obtained leading to the appropriate genetic counseling to the patient. Other options include DNA sequencing and linkage analysis (which tests whether FAP is associated with particular markers in or near APC but requires large families). Even by combining two or more techniques, it is not possible to achieve 100% sensitivity, because the mutations may not be in the coding region of the gene or because a few FAP kindreds do not exhibit linkage to chromosome 5q.

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