Tags

Type your tag names separated by a space and hit enter

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP.
Clin Genet. 2007 Dec; 72(6):562-7.CG

Abstract

This study evaluated the use of genetic testing and time trends in hereditary non-polyposis colorectal cancer (HNPCC), (attenuated) familial adenomatous polyposis [(A)FAP] and human MutY homolog (MUTYH) associated polyposis (MAP) families. Eighty-seven families, who were diagnosed with disease-causing mutations between 1995 and 2006, were included in this study. The families consisted of 1547 individuals at risk. Data of these individuals were collected from medical records and family pedigrees. There was considerable interest in genetic testing with test rates of 41% in HNPCC families, 42% in (A)FAP families and 53% in MAP families. The use of genetic testing was associated with age and parenthood. Despite the interest in genetic testing, many risk carriers do not apply for testing. Moreover, time trend analysis showed a decline in test rate in HNPCC families. Studies evaluating the reasons for not testing are needed. Furthermore, a better implementation of genetic testing in clinical practice is desirable.

Authors+Show Affiliations

Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. d.ramsoekh@erasmusmc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17922849

Citation

Ramsoekh, D, et al. "The Use of Genetic Testing in Hereditary Colorectal Cancer Syndromes: Genetic Testing in HNPCC, (A)FAP and MAP." Clinical Genetics, vol. 72, no. 6, 2007, pp. 562-7.
Ramsoekh D, van Leerdam ME, Tops CM, et al. The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. Clin Genet. 2007;72(6):562-7.
Ramsoekh, D., van Leerdam, M. E., Tops, C. M., Dooijes, D., Steyerberg, E. W., Kuipers, E. J., & Wagner, A. (2007). The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. Clinical Genetics, 72(6), 562-7.
Ramsoekh D, et al. The Use of Genetic Testing in Hereditary Colorectal Cancer Syndromes: Genetic Testing in HNPCC, (A)FAP and MAP. Clin Genet. 2007;72(6):562-7. PubMed PMID: 17922849.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP. AU - Ramsoekh,D, AU - van Leerdam,M E, AU - Tops,C M J, AU - Dooijes,D, AU - Steyerberg,E W, AU - Kuipers,E J, AU - Wagner,A, Y1 - 2007/10/07/ PY - 2007/10/10/pubmed PY - 2008/1/23/medline PY - 2007/10/10/entrez SP - 562 EP - 7 JF - Clinical genetics JO - Clin. Genet. VL - 72 IS - 6 N2 - This study evaluated the use of genetic testing and time trends in hereditary non-polyposis colorectal cancer (HNPCC), (attenuated) familial adenomatous polyposis [(A)FAP] and human MutY homolog (MUTYH) associated polyposis (MAP) families. Eighty-seven families, who were diagnosed with disease-causing mutations between 1995 and 2006, were included in this study. The families consisted of 1547 individuals at risk. Data of these individuals were collected from medical records and family pedigrees. There was considerable interest in genetic testing with test rates of 41% in HNPCC families, 42% in (A)FAP families and 53% in MAP families. The use of genetic testing was associated with age and parenthood. Despite the interest in genetic testing, many risk carriers do not apply for testing. Moreover, time trend analysis showed a decline in test rate in HNPCC families. Studies evaluating the reasons for not testing are needed. Furthermore, a better implementation of genetic testing in clinical practice is desirable. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/17922849/The_use_of_genetic_testing_in_hereditary_colorectal_cancer_syndromes:_genetic_testing_in_HNPCC__A_FAP_and_MAP_ L2 - https://doi.org/10.1111/j.1399-0004.2007.00912.x DB - PRIME DP - Unbound Medicine ER -