title: The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP.
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.affiliation: Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. d.ramsoekh@erasmusmc.nl
authors.forename: D
authors.initials: D
authors.lastname: Ramsoekh
authors.forename: M E
authors.initials: ME
authors.lastname: van Leerdam
authors.forename: C M J
authors.initials: CM
authors.lastname: Tops
authors.forename: D
authors.initials: D
authors.lastname: Dooijes
authors.forename: E W
authors.initials: EW
authors.lastname: Steyerberg
authors.forename: E J
authors.initials: EJ
authors.lastname: Kuipers
authors.forename: A
authors.initials: A
authors.lastname: Wagner
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D015331:Cohort Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D045647:DNA Glycosylases / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D012307:Risk Factors; D013577:Syndrome
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase