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.
Conclusion: These genetic studies suggest that an increased genetic instability did not lead to p53 gene mutations in this breast cancer patient.