title: A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family.
abstract: We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma. The patient's family fulfilled the clinical criteria of the Bethesda guidelines for Lynch syndrome. The segregation analysis determined the presence of the mutation in the proband's mother (breast cancer younger than 40 years old) and in two healthy daughters. The mutation was not present in 116 normal controls screened. The medical implications for the carrier relatives are discussed.
authors.affiliation: Clinical Genetics Unit, University Clinic of Navarra, Pamplona, Navarra, Spain. rzarate@unav.es
authors.forename: Ruth
authors.initials: R
authors.lastname: Zárate
authors.forename: Ana
authors.initials: A
authors.lastname: Patiño-García
authors.forename: Jesús
authors.initials: J
authors.lastname: Sola
authors.forename: Jesús
authors.initials: J
authors.lastname: García-Foncillas
mesh_terms: D016022:Case-Control Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D010375:Pedigree; D013030:Spain; D044465:White People
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein