To our knowledge, this is the first report of PDAC associated with a germline PTEN mutation, particularly a rare variant (p.Arg234Gln</span>) with cancer risks.
The mutation was identified in a patient with a glioma, and turned out to be a heterozygous germline mutation of PTEN (Arg234Gln), without loss of heterozygosity in tumour DNA.
Germline exome sequencing revealed a missense mutation of PTEN (p.Arg234Gln), a rare variant with a reported association with cancer development but not with other PHTS phenotypes.
To our knowledge, this is the first report of PDAC associated with a germline PTEN mutation, particularly a rare variant (p.Arg234Gln</span>) with cancer risks.
To our knowledge, this is the first report of PDAC associated with a germline PTEN mutation, particularly a rare variant (p.Arg234Gln) with cancer risks.
Together, these findings suggest that the Arg234Gln missense mutation in PTEN has oncogenic properties and predisposes to brain tumours of multiple lineages.