Skip to main content
Figure 1 | Hereditary Cancer in Clinical Practice

Figure 1

From: Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

Figure 1

PTEN exon 5 gene mutations identified in PHTS patients. A and B) Sequence analysis PTEN exon 5 region. Sequence analysis was performed on amplified fragments from gDNA of the patients 1 and 2. Reported here are the electropherograms around the identified mutations: c.406 T- > C; p.136Cys- > Arg and c.320A- > T; p.107Asp- > Val. The specific mutated nucleotide is showed within the black box. C and D) In sylico analysis of identified mutations. Graphical representations of PolyPhen-2 computational analysis obtained for mutations c.406 T- > C; p.136Cys- > Arg and c.320A- > T; p.107Asp- > Val.

Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287