Breast Metachronous Carcinoma and Sarcoma in a Young Patient Leading to the Diagnosis of Li-Fraumeni Syndrome

Abstract

Genetic and familial cancer syndromes are more prevalent in young patients compared to older counterparts. BRCA1 and BRCA2 mutations account for about 10% of all breast cancer cases in young women. Nevertheless, very early onset breast cancer might be the initial presentation of Li-Fraumeni syndrome (LFS). LFS is also known as sarcoma, breast, leukemia and adrenal gland (SBLA) cancer syndrome and is caused by the germline mutation of the TP53 gene, responsible for a wide spectrum of early-onset malignancies [3]. Its transmission is autosomal dominant with a prevalence of around 1/100000 in the general population and 1% of all breast cancers. Half of affected women will develop a cancer by the age 30 and the penetrance of the germline TP53 mutation reaches 100%. Breast cancer is the most common adult malignancy among patients with LFS [4].