title: Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
abstract: A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.
authors.affiliation: McGill University, Montreal, QC, Canada|barbara.riverap@gmail.com
authors.forename: Barbara
authors.initials: B
authors.lastname: Rivera
authors.affiliation: McGill University, Montreal, QC, Canada
authors.forename: Ester
authors.initials: E
authors.lastname: Castellsagué
authors.affiliation: McGill University, Montreal, QC, Canada
authors.forename: Ismaël
authors.initials: I
authors.lastname: Bah
authors.affiliation: Jewish General Hospital, Montreal, QC, Canada
authors.forename: Léon C
authors.initials: LC
authors.lastname: van Kempen
authors.affiliation: McGill University, Montreal, QC, Canada
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D000328:Adult; D000483:Alleles; D002277:Carcinoma / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D043224:Deoxyribonuclease (Pyrimidine Dimer) / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D043224:Deoxyribonuclease (Pyrimidine Dimer); C468347:NTHL1 protein, human