title: Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.
abstract: Some of the APC negative FAP and AFAP cases have recently been found to be attributable to MYH associated polyposis (MAP). MAP is an autosomal recessive syndrome associated with 5-100 colorectal adenomas and caused by mutation in the MYH gene. Here, we screened for germline MYH mutations in 82 APC-mutation-negative probands with classical and attenuated familial adenomatous polyposis using the denaturing high performance liquid chromatography (DHPLC) method in combination with sequencing. Altogether 12 previously reported changes and four novel genetic alterations, mostly in intronic sequences, were identified. The results revealed the presence of biallelic germline MYH mutations in two patients. These patients were compound heterozygotes for two of the most common germline mutations c.494 A>G (p.Y165C); c.1,145 G>A (p.G382D). These variants are established to be associated with adenomatous polyposis and colorectal cancer. No novel pathogenic mutation has been identified in our study.
authors.affiliation: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Charles University, Prague 2, Albertov 4, 128 00, Czech Republic. m.sulova@post.cz
authors.forename: M
authors.initials: M
authors.lastname: Sulová
authors.forename: K
authors.initials: K
authors.lastname: Zídková
authors.forename: Z
authors.initials: Z
authors.lastname: Kleibl
authors.forename: J
authors.initials: J
authors.lastname: Stekrová
authors.forename: V
authors.initials: V
authors.lastname: Kebrdlová
authors.forename: M
authors.initials: M
authors.lastname: Bortlík
authors.forename: M
authors.initials: M
authors.lastname: Lukás
authors.forename: M
authors.initials: M
authors.lastname: Kohoutová
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D018153:Czech Republic; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D017491:Genes, APC; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D018995:Myosin Heavy Chains / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D018995:Myosin Heavy Chains