Fig. 2

Histological features of breast tumor related to p.(W53*) variant in TP53 gene and TP53 electropherograms in both index cases. A Immunohistochemical expression patterns (×200 magnification, scale bar corresponds to 200 μm). The tumor sample of F2 index case staining showed a loss of nuclear expression for p53 protein. a: Histopathological examination showing the infiltration of the breast with single files of small, monomorphic and discohesive cells surrounded by a desmoplastic stroma. b: Immunohistochemical staining of E-cadherin showing the negativity of the neoplastic cells. c: Immunohistochemical staining of ER showing nuclear and intensive staining of the neoplastic cells. d: Immunohistochemical staining of PR showing nuclear and intensive staining of the neoplastic cells. e: Positive internal control of HER2. f: Neoplastic cells are negative for Her2. g: Focal expression of Ki67. h. Loss of nuclear expression for p53 protein. B TP53 electropherogram in family 1 with variant c.742C>T p.(R248W). The red letter indicates the new amino-acid change at position 248. C TP53 electropherogram in family 2 with variant c.159G>A p.(W53*). The red symbol (*) indicates the premature stop codon at position 53. B and C The black arrow shows the variation at the heterozygous state in the reference sequence NM_000546.5 of TP53 gene. The purple letters refer to the amino-acid sequence. ER: estrogen receptor; HER2: human epidermal growth factor receptor 2; PR: progesterone receptor