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The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP
Author(s) -
Ramsoekh D,
van Leerdam ME,
Tops CMJ,
Dooijes D,
Steyerberg EW,
Kuipers EJ,
Wagner A
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00912.x
Subject(s) - mutyh , genetic testing , familial adenomatous polyposis , pedigree chart , colorectal cancer , medicine , genetic counseling , lynch syndrome , genetics , cancer , adenomatous polyposis coli , oncology , dna mismatch repair , mutation , germline mutation , biology , gene
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.