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Table 1 Germline TP53 variants associated with phyllode tumors or lobular carcinoma reported in literature

From: Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation

Histological finding References Cohort TP53 variants Tumor onset age (yo) Tumor phenotype
Phyllode tumors Mazoyer et al. [16] 1/2 c.770T>A
p.(L257Q)
11 Osteosarcoma
15 Phyllode tumor
22 Soft-tissue sarcoma
Nogales et al. [17] 1 c.1006G>T
p.(E336*)
10 Telangiectatic osteosarcoma
18 Bilateral phyllode tumor
21 Reticulohistiocytoma
23 High-grade intraductal carcinoma of the left breast
23 Multifocal intrafollicular granulosa cell tumor of the right ovary
24 Retroperitoneum liposarcoma
25 Leiomyosarcoma
Prochazkova et al. [18] 1 c.742C>T
p.(R248W)
27 Malignant phyllode tumor
17 Malignant fibrous histiocytoma
Our study: F1 index case 1/2 c.742C>T
p.(R248W)
27 Benign phyllode tumor and invasive ductal breast carcinoma
ILC Rath et al. [19] 1/213 c.1000G>C
p.(G334R)
44 MDLC
Meiss et al. [20] 1/612 c.725G>A
p.(C242Y)
66 Grade 2 ILC ER+/PR−/HER2−
Petridis et al. [21] 0/1434 NA NA NA
Ditchi et al. [22] 1/3469 * * ILC
Le AN et al. [23] 3/94 * * MDLC
Kuba et al. [24] 1/27 * * MDLC
Our study: F2 index case 1/2 c.159G>A
p.(W53*)
35 Unilateral ILC ER+/PR+/HER2−
  1. ER: estrogen receptor; HER2: human epidermal growth factor receptor 2; IDC: invasive ductal breast carcinoma; ILC: invasive lobular breast carcinoma;
  2. MDLC: mixed ductal and lobular carcinoma; NA: not applied; PR: progesterone receptor; (*): not determined; (+): positive expression; (−): negative expression