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Table 2 Description of patients with c.586 C > T (p.R196X) TP53 pathogenic variant

From: Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report

Case

Age at diagnosis of first tumor (years)

Age at death or age at end of follow-up (years)

Gender

Tumor description

Present case (2023)

Colombia

12

38 (death)

Female

Femur osteosarcoma, ductal carcinoma of the breast, high-grade breast sarcoma, pleomorphic sarcoma of the left upper limb, infiltrating lobular carcinoma of the breast, gastric adenocarcinoma, leiomyosarcoma of the right upper limb, high-grade pleomorphic renal sarcoma

Bendig, et al. [11]

Germany

1

1 (follow-up)

Male

Rhabdomyosarcoma

Vahteristo, et al. [12]

Finland

32

37 (follow-up)

Female

Liposarcoma, breast cancer

Villani, et al. [13]

Canada

35

39 (follow-up)

Female

Colonic adenoma, intraductal carcinoma of the breast