title: Genetic instability did not lead to p53 mutations in an extremely early-onset breast cancer in a cancer-prone family.
abstract: BACKGROUND
  A positive family history is a major contributor to risk of development of breast cancer.
  
  
  METHODS
  Somatic and germ line mutations of p53 and genetic instability were evaluated for an extremely early-onset breast cancer case in a cancer-prone family.
  
  
  RESULTS
  The mode of inheritance in this case was clearly autosomal dominant. DNA replication error was recognized by detecting microsatellite allelic alterations. However, mutations of p53 were not found at either somatic or germ-line level.
  
  
  CONCLUSIONS
  These genetic studies suggest that an increased genetic instability did not lead to p53 gene mutations in this breast cancer patient.
authors.affiliation: Department of Surgery, Yokohama City University, School of Medicine, Yokohama, Kanagawa, Japan. yasu0514@med.yokohama-cu.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Ishikawa
authors.forename: I
authors.initials: I
authors.lastname: Ikeda
authors.forename: N
authors.initials: N
authors.lastname: Momiyama
authors.forename: H
authors.initials: H
authors.lastname: Yamaoka
authors.forename: A
authors.initials: A
authors.lastname: Ishiyama
authors.forename: T
authors.initials: T
authors.lastname: Chishima
authors.forename: Y
authors.initials: Y
authors.lastname: Ichikawa
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: T
authors.initials: T
authors.lastname: Shuin
authors.forename: H
authors.initials: H
authors.lastname: Shimada
mesh_terms: D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000235:genetics*; D004261:DNA Replication / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007124:Immunoenzyme Techniques; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000032:analysis / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53