Table 4 Top-five false positives of our proposed model

“Heterozygous PU.1 mutations were reported in some patients with PHENO (AML), but not in AML with translocation t(8;21), which gives rise to the fusion gene PROT-ETO”

AML1

Acute myeloid leukemia

“PROT is also involved in the proteolytic breakdown of the extracellular matrix in PCa tumorigenesis, which contributes to tumor invasion and metastasis, and high serum PSA correlates with mutations in p53 and the overexpression of the B-cell lymphoma 2 protein, which inhibits apoptosis in PHENO cells”

PSA

Tumor

“This spectrum of somatic mutation differed from PROT mutations identified in human peripheral blood T lymphocytes and from germ-line HPRT mutations identified in Lesch-Nyhan syndrome or PHENO patients”

HPRT

Hyperuricemia

“However, a recent study, in PHENO cells, has demonstrated the involvement of p27 (increase of expression) rather than cyclin D1 in G1 cell cycle arrest induced by tunicamycin and another study, in human breast cancer cells, showed that knockdown of PROT, results in cell cycle arrest in G2/M phase”

PERK

Melanoma

“The disease is characterized by two major sets of defects; i.e., systemic purine metabolism expressed as hyperuricemia, gouty arthritis and PHENO, and dysfunction of basal ganglia and other neural pathways associated with the hallmark biochemical defect in HPRT deficiency; i.e., markedly reduced neurotransmitter dopamine (DA) in the basal ganglia in both the human and mouse PROT-deficient brain and resulting dystonia”

HPRT

Renal calculi