Abstract
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary cancer predisposition accounting for approximately l%–5% of all colorectal cancers. Clinical management of HNPCC families is most challenging due to the following factors: (1) reduced penetrance of approximately 80%; (2) predisposition to cancer of the colorectum but also of the endometrium, urinary tract and small bowel; (3) broad inter- and intrafamilial heterogeneity; and (4) highly accelerated adenoma carcinoma sequence in the colorectum. To date, HNPCC may be defined either by the so-called Amsterdam I+II criteria or by detection of a mutation in one of the mismatch repair genes. Once the positive mutation has been identified, predictive testing of at-risk family members is available. Screening recommendations for clinically identified families, mutation carriers, and their unaffected at-risk relatives must be defined for clinical management. The question of prophylactic colectomy in HNPCC is also discussed.
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© 2003 Springer-Verlag Berlin Heidelberg
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Möslein, G. (2003). Clinical Implications of Molecular Diagnosis in Hereditary Nonpolyposis Colorectal Cancer. In: Allgayer, H., Heiss, M.M., Schildberg, F.W. (eds) Molecular Staging of Cancer. Recent Results in Cancer Research, vol 162. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59349-9_6
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DOI: https://doi.org/10.1007/978-3-642-59349-9_6
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