The constant denaturant gel electrophoresis technique was used to screen for TP53 germ line mutations in 237 women with breast carcinoma (167 unselected patients, 30 patients with at least one first-degree relative with breast cancer, and 40 women diagnosed with breast cancer before age 35). A germ line mutation at codon 181 was noted in one of the unselected patients and a codon 245 mutation in one of the early-onset patients. Both had a family history of breast cancer and other malignancies suggestive of Li-Fraumeni syndrome. The codon 245 mutation was also present in this patient's affected mother.
This work was supported by grants from the Norwegian Cancer Society, the Norwegian Council for Science and Humanities, The Nordic Fund for Technology and Industrial Development, Thorsteds Legacy, Grethe Harbitz Legacy for Cancer Research, The Icelandic Cancer Society Science Fund, The Research Fund of the University of Iceland, and The Medical Research Council of Canada.