title: Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.
abstract: To estimate the prevalence of TP53 mutations in familial breast cancer, constant denaturant gel electrophoresis (CDGE) was used to screen exons 5-8 of the TP53 gene for germline mutations. Genomic DNA from 128 breast cancer patients belonging to 109 families with familial cancer were screened. No germline mutations were found in any of the patients. We also studied TP53 mutations in tumour DNA from 51 of the same individuals and found mutations in 14%. This is similar to what has been reported in sporadic breast cancer.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Zelada-Hedman
authors.forename: A L
authors.initials: AL
authors.lastname: Børresen-Dale
authors.forename: A
authors.initials: A
authors.lastname: Claro
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: L
authors.initials: L
authors.lastname: Skoog
authors.forename: A
authors.initials: A
authors.lastname: Lindblom
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005192:Family Health; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D009691:Nucleic Acid Denaturation; D017421:Sequence Analysis; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53