J Breast Cancer.  2021 Apr;24(2):175-182. 10.4048/jbc.2021.24.e16.

Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations

Affiliations
  • 1Division of Breast Surgery, Department of Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 2Department of Surgery, King Fahd Military Medical Complex, Dhahran, Saudi Arabia
  • 3Department of Surgery, Seoul National University College of Medicine, Seoul, Korea
  • 4Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea
  • 5Cancer Research Institute, Seoul National University, Seoul, Korea
  • 6Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • 7Department of Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

Abstract

Purpose
Li-Fraumeni syndrome (LFS) is a rare autosomal cancer syndrome caused by a germline mutation in the TP53 gene. Breast cancer in LFS patients is of various subtypes; however, limited data are available on the clinicopathological features of these subtypes and their appropriate treatments. This study aimed to review the clinical features and treatments for breast cancer in South Korean patients with germline TP53 mutations.
Methods
Data on the clinicopathological features and treatment of all breast cancer patients with LFS were collected retrospectively from the available database of 4 tertiary hospitals in the Republic of Korea.
Results
Twenty-one breast cancer cases in 12 unrelated women with confirmed germline TP53 mutations were included in the study. The median age at diagnosis was 33.5 years. The histopathological diagnosis included invasive ductal carcinoma (n = 16), ductal carcinoma in situ (n = 3), and malignant phyllodes tumor (n = 2). While 42% and 31% of the cases were positive for estrogen and progesterone receptors, respectively, 52.6% were human epidermal growth factor receptor 2 (HER2) positive, and 21% were triple-negative. The treatments included mastectomy (52%) and breast-conserving surgery (38%). Five patients underwent radiotherapy (RT). The median follow-up period was 87.5 (8–222) months. There were 3 ipsilateral and 4 contralateral breast recurrences during the follow-up, and 8 patients developed new primary cancers. In the post-RT subgroup, there were 2 ipsilateral and 2 contralateral breast recurrences in 1 patient, and 4 patients had a new primary cancer.
Conclusion
As reported in other countries, breast cancer in LFS patients in South Korea had an early onset and were predominantly but not exclusively positive for HER2. A multidisciplinary approach with adherence to the treatment guidelines, considering mastectomy, and avoiding RT is encouraged to prevent RT-associated sequelae in LFS patients.

Keyword

Breast neoplasms; Genes; erbB-2; Li-Fraumeni syndrome; Genes; p53
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