Macam-macam gen supresor tumor

Familial Cancer Syndrome	Tumor Suppressor Gene	Function	Chromosomal Location	Tumor Types Observed
Li-Fraumeni Syndrome	P53	cell cycle regulation, apoptosis	17p13.1	brain tumors, sarcomas, leukemia, breast cancer
Familial Retinoblastoma	RB1	cell cycle regulation	13q14.1-q14.2	retinoblastoma, osteogenic sarcoma
Wilms Tumor	WT1	transcriptional regulation	11p13	pediatric kidney cancer, most common form of childhood solid tumor
Neurofibromatosis Type 1	NF1, protein = neurofibromin 1	catalysis of RAS inactivation	17q11.2	neurofibromas, sarcomas, gliomas
Neurofibromatosis Type 2 GeneReviews	NF2, protein = merlin or neurofibromin 2	linkage of cell membrane to actin cytoskeleton	22q12.2	Schwann cell tumors, astrocytomas, meningiomas, ependymonas
Familial Adenomatous Polyposis	APC	signaling through adhesion molecules to nucleus	5q21-q22	colon cancer
Tuberous sclerosis 1 GeneReviews	TSC1, protein = hamartin	forms complex with TSC2 protein, inhibits signaling to downstream effectors of mTOR	9q34	seizures, mental retardation, facial angiofibromas
Tuberous sclerosis 2 GeneReviews	TSC2, protein = tuberin	see TSC1 above	16p13.3	benign growths (hamartomas) in many tissues, astrocytomas, rhabdomyosarcomas
Deleted in Pancreatic Carcinoma 4, Familial juvenile polyposis syndrome GeneReviews	DPC4, also known as SMAD4	regulation of TGF-β/BMP signal transduction	18q21.1	pancreatic carcinoma, colon cancer
Deleted in Colorectal Carcinoma	DCC	transmembrane receptor involved in axonal guidance via netrins	18q21.3	colorectal cancer
Familial Breast Cancer GeneReviews	BRCA1	functions in transcription, DNA binding, transcription coupled DNA repair, homologous recombination, chromosomal stability, ubiquitination of proteins, and centrosome replication	17q21	breast and ovarian cancer
Familial Breast Cancer GeneReviews	BRCA2: same as the FANCD1 locus	transcriptional regulation of genes involved in DNA repair and homologous recombination	13q12.3	breast and ovarian cancer
Cowden syndrome GeneReviews	PTEN =phosphatase and tensin homolog	phosphoinositide 3-phosphatase, protein tyrosine phosphatase	10q23.3	gliomas, breast cancer, thyroid cancer, head & neck squamous carcinoma
Peutz-Jeghers Syndrome (PJS) GeneReviews	STK11 (serine-threonine kinase 11), a nuclear localized kinase, was also called STK11	phosphorylates and activatesAMP-activated kinase (AMPK), AMPK involved in stress responses, lipid and glucose meatabolism	19p13.3	hyperpigmentation, multiple hamartomatous polyps, colorectal, breast and ovarian cancers
Hereditary Nonpolyposis Colon Cancer type 1, HNPCC1 GeneReviews	MSH2	DNA mismatch repair	2p22-p21	colon cancer
Hereditary Nonpolyposis Colon Cancer type 2, HNPCC2 GeneReviews	MLH1	DNA mismatch repair	3p21.3	colon cancer
Familial diffuse-type gastric cancer GeneReviews	CDH1, protein = E-cadherin	cell-cell adhesion protein	16q22.1	gastric cancer, lobular breast cancer
von Hippel-Lindau Syndrome	VHL	regulation of transcription elongation through activation of a ubiquitin ligase complex	3p26-p25	renal cancers, hemangioblastomas, pheochromocytoma, retinal angioma
Familial Melanoma OMIM data	CDKN2A = tumor suppressor: protein = cyclin-dependent kinase inhibitor 2A gene produces 2 proteins: p16INK4 and p14ARF	p16INK4 inhibitscell-cycle kinases CDK4 and CDK6; p14ARF binds the p53stabilizing protein MDM2	9p21	melanoma, pancreatic cancer, others
Gorlin Syndrome: Nevoid basal cell carcinoma syndrome (NBCCS) GeneReviews	PTCH, protein = patched	transmembrane receptor for sonic hedgehog (shh), involved in early development through repression of action of smoothened	9q22.3	basal cell skin carcinoma