title: Germline p53 mutation in a patient with multiple primary cancers.
abstract: We report a case of multiple primary cancers having a germline missense mutation of the p53 gene. The patient was a Japanese female and had a history of five different types of cancers. PCR/direct sequencing analysis revealed the presence of a nucleotide substitution, AGC (Ser) to AGG (Arg), at codon 106 of the p53 gene in DNA from non-cancerous breast tissue. This is the first case of germline p53 mutation at codon 106, and could contribute to establishing correlations between the types and locations of germline p53 mutations and their phenotypical consequences.
authors.affiliation: Biology Division, National Cancer Center Research Institute, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Shinmura
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Beppu
authors.forename: R
authors.initials: R
authors.lastname: Yokoyama
authors.forename: J
authors.initials: J
authors.lastname: Yokota
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics; D001859:Bone Neoplasms / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005269:Femur; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics; D020125:Mutation, Missense; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012516:Osteosarcoma / Q000235:genetics; D010144:Paget's Disease, Mammary / Q000235:genetics; D010375:Pedigree