مشخصات پژوهش

Introduction: Li-Fraumeni syndrome is a relatively rare inherited cancer predisposition disorder. It is manifested by susceptibility to early onset of multiple specific cancers such as breast cancer, osteosarcoma, brain neoplasm, adrenal tumors and leukemia. This syndrome is caused by heterozygous mutations in the p53 tumor suppressor gene. methods: Here we report a patient harbouring a heterozygous splice site mutation in TP53 gene with possible Li-Fraumeni Syndrome, who was diagnosed with invasive ductal carcinoma of the right breast at the age of 40. The diagnosis is based on TP53 gene mutation analysis in exons 4-9 and adjacent intronic regions by direct sequencing among Iranian-Azeri patients with breast carcinoma. Conclusion: This is the first report of this syndrome in an Iranian family and can open a new avenue for a better understanding of familial cancer in Azeri population. Also, it is highlighted that we need to study all p53 exonic and exon-intron borders in searching for germ line p53 mutations in LFS syndrome.