Article
Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations.
BMC medical genetics - 2 Jul 2007
Nielsen Maartje, Hes Frederik J, Vasen Hans F A, van den Hout Wilbert B
Abstract excerpt
BACKGROUND: MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population,...
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