High-Yield Genes

Question 1

SMAD4

Answer 1

tumor suppressor gene that mediates transforming growth factor-beta superfamily signaling and is located in chromosome 18q21, a region with frequent genetic losses in these tumors.
Involved in Juvenile polyposis syndrome

Question 2

HNPCC

Answer 2

Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair.

Question 3

DCC

Answer 3

Deleted in Colorectal Carcinoma, also known as DCC, is a protein which in humans is encoded by the DCC gene. DCC has long been implicated in colorectal cancer. While the official, full name of this gene is Deleted in Colorectal Carcinoma, it is almost universally called Deleted in Colorectal Cancer. The protein product of DCC is a single transmembrane receptor also known as DCC, and it has the same interchangeable name.

Question 4

N-myc

Answer 4

amplification is seen in approximately 25% of neuroblastoma cases and correlates with high-risk disease and poor prognosis

Question 5

1p and 16q

Answer 5

Tumor-specific loss of heterozygosity for chromosomes 1p and 16q is associated with a significant increase in risk of relapse and death in patients with Wilms tumor

Question 6

t(11;22)(q24;q12)

Answer 6

Ewing sarcoma and peripheral neural ectodermal tumors share a unique and specific t(11;22)(q24;q12) chromosomal translocation.

Question 7

PAX5

Answer 7

The PAX5 gene is often rearranged in BCR-ABL1–positive acute lymphoblastic leukemia but is not associated with outcome.

Question 8

t(2;13) translocation

Answer 8

More than 70% of alveolar rhabdomyosarcomas are characterized by a translocation between the long arm of chromosome 2 and the long arm of chromosome 13. The t(2;13) translocation involves the PAX genes 3 and 7 and leads to the production of two novel fusion genes, PAX3-FKHR and PAX7-FKHR. Patients whose tumors are fusion positive with either protein have a worse prognosis than those who are fusion negative regardless of histology. Most tumors that are fusion positive have an alveolar histology.

Question 9

Kras

Answer 9

The gene product was first found as a p21 GTPase.[6][7] Like other members of the ras subfamily, the KRAS protein is a GTPase and is an early player in many signal transduction pathways. KRAS is usually tethered to cell membranes because of the presence of an isoprene group on its C-terminus.

This proto-oncogene is a Kirsten ras oncogene homolog from the mammalian ras gene family. A single amino acid substitution, and in particular a single nucleotide substitution, is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma,[10] mucinous adenoma, ductal carcinoma of the pancreas and colorectal cancer.