A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53)

Vanessa Petry; Renata Colombo Bonadio; Laura Testa; Daniela Jbh Cohn; Allyne Cagnacci; Roberta G Campos; Maria Cândida Bv Fragoso; Maria Del Pilar Estevez-Diz

doi:10.1016/j.breast.2023.02.002

A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53)

Breast. 2023 Apr:68:157-162. doi: 10.1016/j.breast.2023.02.002. Epub 2023 Feb 7.

Authors

Vanessa Petry¹, Renata Colombo Bonadio², Laura Testa², Daniela Jbh Cohn³, Allyne Cagnacci⁴, Roberta G Campos³, Maria Cândida Bv Fragoso⁵, Maria Del Pilar Estevez-Diz²

Affiliations

¹ Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil; Instituto D'Or de Pesquisa e Ensino (IDOR), São Paulo, Brazil. Electronic address: vanessa.petry@hc.fm.usp.br.
² Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil; Instituto D'Or de Pesquisa e Ensino (IDOR), São Paulo, Brazil.
³ Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil.
⁴ Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil; Hospital Alemão Oswaldo Cruz, São Paulo, Brazil.
⁵ Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil; Universidade de São Paulo, Brazil.

Abstract

Introduction: Breast cancer (BC) is the most common type of cancer in premenopausal women with germline TP53 pathogenic variants (mTP53) (Li Fraumeni syndrome - LFS). However, little is known about the BC prognosis in these patients. This study analyzed the BC-related oncologic outcomes of patients with LFS.

Methods: We evaluated a cohort of LFS patients with BC in comparison with a control cohort of BC patients with no pathogenic variant in a hereditary cancer panel. The primary endpoint was recurrence-free survival (RFS). Due to the risk of second malignancies in LFS, only locoregional and distant recurrences were considered events for RFS. Secondary endpoints included rates of contralateral BC, overall survival (OS), and breast cancer-specific survival (BCSS).

Results: Forty-one patients were evaluated in the mTP53 group and 82 in the control group. Median age at BC diagnosis was 40 and 41 years, respectively. The mTP53 group received less adjuvant radiotherapy than the control group (63.4% vs 93.9%, P < 0.001). Other relevant baseline characteristics and treatment received were similar between groups. 5y-RFS rates were 79.4% in the mTP53 versus 93.6% in the control group (HR 2.43, 95%CI 0.74-8.01, P = 0.143); and were not impacted by the use of adjuvant radiotherapy. 5y-BCSS rates were 92.2% and 98.6%, respectively (HR 1.87, IC95% 0.25-13.48, P = 0.534).

Conclusions: Our results showed no statistically significant difference in BC-related RFS and BCSS between patients with mTP53 and a control group with no pathogenic variant. Larger multicentric studies are warranted to confirm these results.

Keywords: Breast cancer; Hereditary; Li Fraumeni syndrome; Phenotype; TP53.

MeSH terms

Breast Neoplasms* / diagnosis
Breast Neoplasms* / genetics
Breast Neoplasms* / therapy
Case-Control Studies
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Li-Fraumeni Syndrome* / complications
Li-Fraumeni Syndrome* / diagnosis
Li-Fraumeni Syndrome* / genetics
Prognosis
Tumor Suppressor Protein p53 / genetics

Substances

Tumor Suppressor Protein p53
TP53 protein, human