The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene).
Genes that form the sexually indifferent gonad are SF1 and WT1.
PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1.
Primary peritoneal carcinoma shows similar rates of tumor suppressor gene dysfunction (p53, BRCA, WT1) as ovarian cancer and can also show an increased expression of HER-2/neu.
Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20% of Wilms' tumors.
WT1 |
Genes driving the differentiation into male or female structures are SF1, WT1, and Wnt-4.