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Identification of an HNPCC family.
Am J Gastroenterol. 1994 Apr; 89(4):605-9.AJ

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) families are frequently missed in the clinical practice setting. The events leading to the diagnosis of a new HNPCC family are described, with particular attention to the importance of a detailed and extended pedigree, and the delivery of pertinent educational and cancer control recommendations to family members. Clinical clues suggestive of HNPCC include young age at colon cancer onset (< 45 yr), proximal colon cancers, multiple colon cancer, and a family history of colonic cancer or certain extracolonic cancers, including endometrium, stomach, small bowel, and urinary tract. Once the diagnosis is established, management of high-risk patients must be based on an awareness of these cardinal features. The recent identification of the cancer susceptibility locus at chromosome 2p15-16 for a subset of HNPCC families and its cloning should lead to a blood test for the carrier state. HNPCC families must nevertheless be identified before high risk family members can enjoy the benefits of progress in molecular biology. This HNPCC family report illustrates some of the important clues necessary for recognizing such families, and the logistics of detailed evaluation.

Authors+Show Affiliations

Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8147366

Citation

Lynch, H T., et al. "Identification of an HNPCC Family." The American Journal of Gastroenterology, vol. 89, no. 4, 1994, pp. 605-9.
Lynch HT, Smyrk TC, Cavalieri J, et al. Identification of an HNPCC family. Am J Gastroenterol. 1994;89(4):605-9.
Lynch, H. T., Smyrk, T. C., Cavalieri, J., & Lynch, J. F. (1994). Identification of an HNPCC family. The American Journal of Gastroenterology, 89(4), 605-9.
Lynch HT, et al. Identification of an HNPCC Family. Am J Gastroenterol. 1994;89(4):605-9. PubMed PMID: 8147366.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of an HNPCC family. AU - Lynch,H T, AU - Smyrk,T C, AU - Cavalieri,J, AU - Lynch,J F, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 605 EP - 9 JF - The American journal of gastroenterology JO - Am. J. Gastroenterol. VL - 89 IS - 4 N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) families are frequently missed in the clinical practice setting. The events leading to the diagnosis of a new HNPCC family are described, with particular attention to the importance of a detailed and extended pedigree, and the delivery of pertinent educational and cancer control recommendations to family members. Clinical clues suggestive of HNPCC include young age at colon cancer onset (< 45 yr), proximal colon cancers, multiple colon cancer, and a family history of colonic cancer or certain extracolonic cancers, including endometrium, stomach, small bowel, and urinary tract. Once the diagnosis is established, management of high-risk patients must be based on an awareness of these cardinal features. The recent identification of the cancer susceptibility locus at chromosome 2p15-16 for a subset of HNPCC families and its cloning should lead to a blood test for the carrier state. HNPCC families must nevertheless be identified before high risk family members can enjoy the benefits of progress in molecular biology. This HNPCC family report illustrates some of the important clues necessary for recognizing such families, and the logistics of detailed evaluation. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/8147366/Identification_of_an_HNPCC_family_ DB - PRIME DP - Unbound Medicine ER -