Human Tumor Suppressor Genes

A set of vocabulary flashcards identifying key human tumor suppressor genes, their chromosomal locations, associated syndromes, and biological functions based on Table 7.1.

SDHB

Located at $1p36.1$, this gene functions as succinate dehydrogenase and is associated with familial paraganglioma.

CHD5

Located at $1p36.31$, this gene acts as a histone reader and transcriptional inducer, associated with sporadic cutaneous melanoma.

HRPT2

Located at $1q25-32$, this chromatin protein is associated with familial parathyroid tumors and jaw fibromas.

FH

Located at $1q42.3$, this gene functions as fumarate hydratase and is associated with familial leiomyomatosisa.

FHIT

Located at $3p14.2$, this gene functions as a diadenosine triphosphate hydrolase, linked to many types of sporadic cancer.

BAP1

Located at $3p21.1$, this ubiquitin hydrolase is associated with familial mesothelioma and melanoma, as well as sporadic uveal melanoma.

VHL

Located at $3p25-26$, this gene handles the ubiquitylation of HIF and is associated with von Hippel-Lindau syndrome.

APC

Located at $5q21-22$, this gene is involved in $\text{ẞ-catenin}$ degradation and is associated with familial adenomatous polyposis coli.

NKX3.1

Located at $8p21.2$, this homeobox TF is associated with sporadic prostate carcinoma.

P16INK4Ac

Located at $9p21$, this CDK inhibitor is associated with familial melanoma and many types of sporadic cancer.

P14ARF d

Located at $9p21$, this protein serves as a $p53$ stabilizer and is linked to all types of sporadic cancer.

PTC

Located at $9q22.3$, this receptor for hedgehog is associated with nevoid basal cell carcinoma syndrome and sporadic medulloblastomas.

TSC1

Located at $9q34$, this gene acts as an inhibitor of mTOR and is associated with tuberous sclerosis.

PTENᵍ

Located at $10q23.3$, this $PIP_3$ phosphatase is associated with Cowden's disease and glioblastoma.

WT1

Located at $11p13$, this TF (Transcription Factor) is associated with Wilms tumor.

MEN1

Located at $11p13.5-6$, this gene is involved in histone modification and transcriptional repression, associated with multiple endocrine neoplasia.

SDHDh

Located at $11q23.1$, this mitochondrial protein is linked to familial paraganglioma and pheochromocytoma.

RB

Located at $13q14.2$, this gene controls E2Fs and transcriptional repression; it is associated with retinoblastoma and osteosarcoma.

miR-15a/16-1

Located at $13q14.3$, this miRNA suppresses $Bcl-2, Mcl-1, \text{cyclin } D1, \text{ and } Wnt3a$, and is associated with B-cell lymphoma.

CDH1

Located at $16q22.1$, this gene is involved in cell-cell adhesion and is associated with familial gastric carcinoma.

TP53

Located at $17p13.1$, this TF is associated with Li-Fraumeni syndrome and many types of sporadic cancer.

NF1

Located at $17q11.2$, this Ras-GAP is associated with neurofibromatosis type 1 and sporadic astrocytoma.

DPC4k

Located at $18q21.1$, this $TGF-\beta$ TF is associated with juvenile polyposis and sporadic pancreatic and colon carcinomas.

LKB1/STK11

Located at $19p13.3$, this serine/threonine kinase is associated with Peutz-Jegher syndrome and hamartomatous colonic polyps.

RUNX1

Located at $21q22.12$, this TF is linked to familial platelet disorder and sporadic AML.

NF2

Located at $22q12.2$, this gene provides cytoskeleton-membrane linkage and is associated with neurofibroma-predisposition syndrome.

WTX

Located at $Xq11.1$, this gene functions in $\text{ẞ-catenin}$ degradation and is associated with sporadic Wilms tumor.