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Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum.
Am J Gastroenterol. 2000 Aug; 95(8):2110-5.AJ

Abstract

The recognition of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) remains difficult despite the most recent advancements of molecular biology and technology. We describe two families with early onset of cancer but no suspicion of hereditary tumors; during follow-up, both families developed a tumor spectrum highly suggestive of HNPCC, thus emphasizing the importance of family history for a proper identification of hereditary tumors or cancer aggregation. Microsatellite instability was negative in tumors from both families and, as expected, no germline mutations of the major DNA mismatch repair genes (MSH2 and MLH1) could be detected. Suspicion of the disease at the time of proband's lesion might have led to prevention, or early diagnosis, of at least three malignant tumors. We conclude that a possible genetic origin should always be suspected in individuals with early-onset neoplasms of the large bowel and probably of other organs such as the endometrium, small bowel, and urothelium, even when the initial pedigree does not show marked aggregation of cancers or vertical transmission.

Authors+Show Affiliations

Dipartimento di Medicina Interna, Università di Modena, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10950068

Citation

de Leon, M P., et al. "Problems in the Identification of Hereditary Nonpolyposis Colorectal Cancer in Two Families With Late Development of Full-blown Clinical Spectrum." The American Journal of Gastroenterology, vol. 95, no. 8, 2000, pp. 2110-5.
de Leon MP, Benatti P, Pedroni M, et al. Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. Am J Gastroenterol. 2000;95(8):2110-5.
de Leon, M. P., Benatti, P., Pedroni, M., Viel, A., Genuardi, M., Percesepe, A., & Roncucci, L. (2000). Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. The American Journal of Gastroenterology, 95(8), 2110-5.
de Leon MP, et al. Problems in the Identification of Hereditary Nonpolyposis Colorectal Cancer in Two Families With Late Development of Full-blown Clinical Spectrum. Am J Gastroenterol. 2000;95(8):2110-5. PubMed PMID: 10950068.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. AU - de Leon,M P, AU - Benatti,P, AU - Pedroni,M, AU - Viel,A, AU - Genuardi,M, AU - Percesepe,A, AU - Roncucci,L, PY - 2000/8/19/pubmed PY - 2000/9/2/medline PY - 2000/8/19/entrez SP - 2110 EP - 5 JF - The American journal of gastroenterology JO - Am. J. Gastroenterol. VL - 95 IS - 8 N2 - The recognition of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) remains difficult despite the most recent advancements of molecular biology and technology. We describe two families with early onset of cancer but no suspicion of hereditary tumors; during follow-up, both families developed a tumor spectrum highly suggestive of HNPCC, thus emphasizing the importance of family history for a proper identification of hereditary tumors or cancer aggregation. Microsatellite instability was negative in tumors from both families and, as expected, no germline mutations of the major DNA mismatch repair genes (MSH2 and MLH1) could be detected. Suspicion of the disease at the time of proband's lesion might have led to prevention, or early diagnosis, of at least three malignant tumors. We conclude that a possible genetic origin should always be suspected in individuals with early-onset neoplasms of the large bowel and probably of other organs such as the endometrium, small bowel, and urothelium, even when the initial pedigree does not show marked aggregation of cancers or vertical transmission. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/10950068/Problems_in_the_identification_of_hereditary_nonpolyposis_colorectal_cancer_in_two_families_with_late_development_of_full_blown_clinical_spectrum_ L2 - http://Insights.ovid.com/pubmed?pmid=10950068 DB - PRIME DP - Unbound Medicine ER -