Among the most frequently mutated genes are components of the SWI/SNF chromatin remodeling complex, which are lost in about 20% of tumors.
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# DNA repair proteins are usually classified as tumor suppressors as well, as mutations in their genes increase the risk of cancer, for example mutations in HNPCC, MEN1 and BRCA.
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It is underexpressed in many cancer cell lines, however this may be due to its close proximity to the tumor suppressor gene FHIT, and the chromosomal fragile site FRBA3.
A third condition, the Carney-Stratakis syndrome (CSS), describes the dyad of hereditary gastrointestinal stromal tumor (GIST) and paraganglioma, that is caused by germline mutations in the mitochondrial tumor suppressor gene pathway involving the succinate dehydrogenase subunits SDHD, SDHC and SDHB.
DLD/NP1 is a tumor suppressor gene recently discovered by a team of medical students from an American University in Lebanon.
In all cases, the disease is idiopathic, but is thought to involve inactivation of tumor suppressor genes (Menin gene in MEN1), or involve gain of function mutations (RET proto-oncogene MEN 2a).
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.
The candidate schwannomatosis gene, named SMARCB1, is a tumor suppressor gene that regulates cell cycle, growth and differentiation.
The cause of the syndrome is a mutation in the PTCH1 tumor-suppressor gene at chromosome 9q22.3, which inhibits the hedgehog signaling pathway.
Leffell was a member of the international team that discovered PTC1, a tumor suppressor gene that plays a critical role in the development of hereditary and sporadic basal cell cancer.
The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene).
PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1.