PMC9171007_01
Panel A shows Hematoxilin-Eosin (HE) picture and immunohystochemical results of E-cadherin (B), estrogen receptor (D), progesterone receptor (C), HER2 and Ki67 expressions in breast cancer of case 1 Panel B: A shows Hematoxilin-Eosin (HE) picture and immunohystochemical results of E-cadherin (B), estrogen receptor (D), progesterone receptor (C), HER2 and Ki67 expressions in breast cancer of case 2.
fonc-12-891426-g001.jpg
PMC9171007_02_fonc-12-891426-g001.jpg
f1
Immunohistochemistry showed negativity for E-cadherin and p53 proteins ( Figure 1 ).
Panel A: Genetic pedigree of case 1 and Sanger sequencing electropherogram of the BRCA2 exon 11 variant c.2808_2811delACAA (p.Ala938ProfsTer21). The alignment to the reference sequence of BRCA2 NM_000059.3 was created by the Mutation Surveyor  Software (v5.1.0). Panel B: Genetic pedigree of case 2 and Sanger sequencing electropherogram of the CDH1 exon 13 variant c.2114delT (p.Leu705CysfsTer17). The alignment to the reference sequence of CDH1 NM_004360.3 was created by the Mutation Surveyor  Software (v5.1.0).
fonc-12-891426-g002.jpg
PMC9171007_02_fonc-12-891426-g002.jpg
f2
As can be seen in the pedigree ( Figure 2B ), the patient's father died at the age of 57 due to a DGC. Germline analysis in the proband revealed the pathogenic variant c.2114delT p.(Leu705CysfsTer17) in the heterozygosity (VAF~0.5) CDH1 gene (transcript NM_004360.5), leading to the diagnosis of hereditary diffuse gastric cancer (HDGC) syndrome (ORPHA 26610) ( Figure 2 ), while BRCA1/2 analysis did not reveal any variant.
PMC9171007_02
Panel A shows Hematoxilin-Eosin (HE) picture and immunohystochemical results of E-cadherin (B), estrogen receptor (D), progesterone receptor (C), HER2 and Ki67 expressions in breast cancer of case 1 Panel B: A shows Hematoxilin-Eosin (HE) picture and immunohystochemical results of E-cadherin (B), estrogen receptor (D), progesterone receptor (C), HER2 and Ki67 expressions in breast cancer of case 2.
fonc-12-891426-g001.jpg
PMC9171007_02_fonc-12-891426-g001.jpg
f1
Immunohistochemistry showed negativity for E-cadherin and p53 proteins ( Figure 1 ).
Panel A: Genetic pedigree of case 1 and Sanger sequencing electropherogram of the BRCA2 exon 11 variant c.2808_2811delACAA (p.Ala938ProfsTer21). The alignment to the reference sequence of BRCA2 NM_000059.3 was created by the Mutation Surveyor  Software (v5.1.0). Panel B: Genetic pedigree of case 2 and Sanger sequencing electropherogram of the CDH1 exon 13 variant c.2114delT (p.Leu705CysfsTer17). The alignment to the reference sequence of CDH1 NM_004360.3 was created by the Mutation Surveyor  Software (v5.1.0).
fonc-12-891426-g002.jpg
PMC9171007_02_fonc-12-891426-g002.jpg
f2
As can be seen in the pedigree ( Figure 2B ), the patient's father died at the age of 57 due to a DGC. Germline analysis in the proband revealed the pathogenic variant c.2114delT p.(Leu705CysfsTer17) in the heterozygosity (VAF~0.5) CDH1 gene (transcript NM_004360.5), leading to the diagnosis of hereditary diffuse gastric cancer (HDGC) syndrome (ORPHA 26610) ( Figure 2 ), while BRCA1/2 analysis did not reveal any variant.