Genetics: Cancer: Block I

Front 1

Mutations in genes controlling proliferation and death are responsible for ________.

Back 1

Cancer

Front 2

DNA primase

Back 2

synthesizes an RNA primer on a parental strand.
A single primer is needed for the leading (continuous) strand.
A primer must be synthesized for each Okazaki fragment (lagging strand).
A new primer every 1000-2000 nucleotides for prokaryotes and 130-200 nucleotides for eukaryotes.

Front 3

Originate from normally occuring genes involved in control of normal cell growth and maturation; a gain of function mutation in one of these controller genes results in this:

Back 3

Oncogenes

Front 4

Ocogenes are activated by which type of mutation?

Back 4

Gain of function mutation- they enhance malignant transformations by mechanisms such as stimulating proliferation, increasing blood supply to the tumor and inhibiting apoptosis.

Front 5

Ocogenes have a ______ effect at the cellular level. Therefore only a single copy of a mutation is sufficient to change the phenotype of a cell from normal to malignant:

Back 5

Dominant Effect

Front 6

This autosomal dominant disease is characterized by a high incidence of medullary thyroid carcinoma and frequently pheochromocytoma and/or parathyroid adenomas

Back 6

Multiple endocrine neoplasia type 2 (MEN2)

Front 7

This disease results from a mutation in the RET oncogene which encodes receptor tyrosine kinase that serves as a ligand receptor

Back 7

MEN2

Front 8

This disease is associated with a loss of function mutation of RET

Back 8

Hirschprung Disease

Front 9

This disease is caused by a RET mutation that leads to a gain of function- causes constitutive activation of a tyrosine kinase

Back 9

MEN2

Front 10

This disease is caused by a translocation that leads to fusion of the protoncogene ABL-BCR

Back 10

CML

Front 11

This disease is associated with the Philadelphia chromosome:

Back 11

CML- 9:22 translocation

Front 12

This translocation allows synthesis of a chimeric protein with increases tyrosine kinase activity that leads to cancer:

Back 12

9:22 translocation- philadelphia chromosome

Front 13

This cancer family syndrome is characterized by different types of cancer including bone and soft tissue sarcoma, breast cancer, brain tumor, leukemia and adrenocortical carcinoma

Back 13

Li-Fraumeni Syndrome

Front 14

This autosomal dominant mutation in the tumor supressor gene p53 occurs in the germline in the majority of affected families

Back 14

Li-Fraumeni Syndrome

Front 15

DNA binding protein that is an important component of the cellular response to DNA damage.

Back 15

p53

Front 16

How does loss of p53 function lead to multiple cancers seen in Li-Fraumeni Syndrome?

Back 16

Mutation in p53 allows cells with damaged DNA to survive and divide thereby propogating potentially oncogenic mutations

Front 17

Li-Fraumeni Syndrome is caused by a mutation in which tumor supressor gene?

Back 17

p53

Front 18

Li-Fraumeni Syndrome is associated with which cancers?

Back 18

Bone and soft tissue sarcoma, breast cancer, brain tumor, leukemia, and adrenalcortical carcinoma.

Front 19

This autosomal dominant disease is caused by a germline p53 mutation that leads to sarcoma:

Back 19

Li-Fraumeni Syndrome

Front 20

This disease is caused by an autosomal dominant germline mutation that leads to development of hundreds to thousands of colorectal adenomas in early adulthood.

Back 20

Familial Adenomatous Polyposis (FAP)

Front 21

This disease is caused by a mutation in the APC gene which has several roles including control of cell adhesion and interactions with the cytoskeleton and B-Catenin which is involved in apoptosis in normal cells.

Back 21

Familial Adenomatous Polyposis

Front 22

This autosomal dominant form of colorectal cancer is not preceded by multiple adenomatous polyps

Back 22

Lynch Syndrome (HNPCC)

Front 23

This disease is characterized by early onset with an increased risk for tumors occuring simultaneously in more than one location in the colon and second primary tumors at a later time:

Back 23

Lynch Syndrome (HNPCC)

Front 24

This disease is characterized by increased risk for cancer of the colon, rectum, as well as endometrial cancer, ovarian, gastric, hepatobiliary, small bowel, urinary tract and brain.

Back 24

Lynch Syndrome (HNPCC)

Front 25

This disease results from mutations in DNA mismatch repair genes that are responsible for identifying and repairing replication errors following DNA synthesis - leading to base pairs in which DNA is not complementary

Back 25

Lynch Syndrome (HNPCC)

Front 26

HNPCC (Lynch Syndrome) is caused by what?

Back 26

Defects in mismatch repair genes - loss of DNA mismatch repair

Front 27

These genes encode protein products that recognize and correct errors that arise when DNA is replicated

Back 27

Mismatch repair genes

Front 28

In this disease, an inactivating germline mutation occurs, loss of the wildtype allele results in a hypermutable cell that is susceptible to an accumulation of mutations at a greatly accelerated rate, which can lead to clonal expansion and development of neoplasms at an excellerated rate

Back 28

HNPCC

Front 29

High amounts of ______ _____ are found in nearly all colorectal tumors that arise with Lynch Syndrome.

Back 29

Microsatellite instability- caused by defective DNA mismatch repair

Front 30

Besides breast and ovarian cancer, what cancers are a person with a BRCA1-2 mutation also at risk for?

Back 30

Male breast cancer, prostate cancer, pancreatic cancer, and melanoma.

Front 31

90% of hereditary ovarian cancers are due to a mutation in what?

Back 31

BRCA 1

Front 32

This chromosomal instability syndrome causes pancytopenia and AML-

Back 32

Fanconi Anemia1

Front 33

This autosomal recessive disease causes radial defects, growth retardation, skin hyperpigementation, hearing loss, and bone marrow supression.

Back 33

Fanconi Anemia