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

Authors
 Hassan Alyami  ;  Tae Kyung Yoo  ;  Jong Ho Cheun  ;  Han Byoel Lee  ;  Sung Mi Jung  ;  Jai Min Ryu  ;  Soong June Bae  ;  Joon Jeong  ;  Chang Ik Yoon  ;  Juneyoung Ahn  ;  Pill Sun Paik  ;  Min Kyung Cho  ;  Woo Chan Park 
Citation
 JOURNAL OF BREAST CANCER, Vol.24(2) : 175-182, 2021-04 
Journal Title
JOURNAL OF BREAST CANCER
ISSN
 1738-6756 
Issue Date
2021-04
Keywords
Breast neoplasms ; Genes, erbB-2 ; Genes, p53 ; Li-Fraumeni syndrome
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.
Files in This Item:
T202102683.pdf Download
DOI
10.4048/jbc.2021.24.e16
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Bae, Soong June(배숭준) ORCID logo https://orcid.org/0000-0002-0012-9694
Jeong, Joon(정준) ORCID logo https://orcid.org/0000-0003-0397-0005
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/184248
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