Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

Author:

Nielsen Maartje,Hes Frederik J,Vasen Hans FA,van den Hout Wilbert B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Al Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP: Inherited variants of MYH associated with somatic G:C--> T:A mutations in colorectal tumors. Nat Genet. 2002, 30 (2): 227-232. 10.1038/ng828.

2. Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der KH, Kloosterman S, Houwing-Duistermaat JJ, Aalfs CM, Ausems MG, Brocker-Vriends AH, Gomez Garcia EB, Hoogerbrugge N, Menko FH, Sijmons RH, Verhoef S, Kuipers EJ, Morreau H, Breuning MH, Tops CM, Wijnen JT, Vasen HF, Fodde R, Hes FJ: Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet. 2005, 42 (9): e54-10.1136/jmg.2005.033217.

3. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003, 362 (9377): 39-41. 10.1016/S0140-6736(03)13805-6.

4. Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz DL, Anselmi L, Mareni C, Bruzzi P, Varesco L: Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer. 2004, 109 (5): 680-684. 10.1002/ijc.20054.

5. Bapat B, Noorani H, Cohen Z, Berk T, Mitri A, Gallie B, Pritzker K, Gallinger S, Detsky AS: Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis. Gut. 1999, 44 (5): 698-703.

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