Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.

Introduction: It is well established that the PKHD1 mutations are associated with autosomal recessive polycystic kidney disease (ARPKD). Although, PKHD1 mutations are also detected in certain cancer types, to our knowledge in rare tumors such as, atypical teratoid rhabdoid tumor (ATRT), primary neuro-ectodermal tumor (PNET), atypicalchoroid plexus papilloma (a-CPP), amelanotic ano-rectal melanoma (AMM), and breast phyllodes tumors PKHD1 mutations profiling is not reported.

Methods: In order to determine the PKHD1 gene mutation patterns in the brain, rectal, and breast tumors we have analyzed these tumor DNA by Ion Proton Next generation DNA sequencing.