Introduction/Background TP53 (Li Fraumeni syndrome, LFS) is located on the short arm of chromosome 17 and plays a fundamental role in the control of cell cycle and apoptosis. LFS (prevalence of 1/15,000–20,000 individuals) only represents 1% of hereditary breast cancer (BC), although it could be responsible for up to 5–8% of BC at early ages.
Methodology Retrospective observational study. Review of patients followed in the inherited cancer unit in a single tertiary centre between 1st January 2012 until 31st March 2022. The statistical analysis was carried out using SPSS 22.0.
Results During the indicated period, we followed 459 patients with confirmed genetic mutations that predispose to developing gynaecological cancer. Of the total, 1.5% (7/459) had LFS. Within this cohort of patients, 5/7 (71.4%) had family history of BC and 1/7 (14.3%) a sarcoma. 4/7 patients were diagnosed with a BC at 30, 35, 36 and 39 years old, respectively. The histology of the primary BC was invasive ductal carcinoma or invasive lobular carcinoma. Tumor stage was I in one case and IIB in three cases. Surgery treatment was: unilateral mastectomy (UM) with homolateral axillary lymphadenectomy (HAL) in 1 patient, conservative surgery with HAL in 1 patient (genetic study and confirmation was after surgery), UM with selective sentinel lymph node biopsy (SSLNB) in 1 patient and bilateral mastectomy with SSLNB and immediate breast reconstruction in 1 patient. Adjuvant treatment was needed in almost all of them: chemotherapy and hormone therapy in one case, radiation therapy in one case (it was before knowing TP53 mutation carrier status), hormone therapy in one case and unknown in one case. Characteristics of these patients are summarized in table 1.
Conclusion Patients carrying TP53 mutations have a high risk of developing breast cancer and should be followed in specialized hereditary cancer units, in tertiary hospitals.
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