Cancer Disorders

Question 0

What are viruses associated with lymphomas.

Answer 0

• human T-cell lymphoma/leukemia virus (HTLV-1)
• EBV
• kaposi sarcoma herpes virus/human herpes virus 8 (HHV-8)

Question 1

What are etologic factors associated with leukemias?

Answer 1

Constitutional: aberration/ genetic predisposition (ex. Down syndrome related leukemia)
Exposures: benzenes, smoking, radiation
Iatrogenic: chemo, radiation
Viruses: EBV

Question 2

What cancer disorder is caused by Rb gene inactivation: loss of TSG resulting in uncontrolled cell proliferation?

Answer 2

Retinoblastoma

Question 3

What cancer disorder has a risk of 1/18,000 to 1/30,000 and is fully penetrant

Answer 3

Retinoblastoma

Question 4

What cancer disorder has the following characteristics:

• familial: bilateral tumors, increased adult cancer risks, will be passed on to descendants
• sporadic: unilateral tumor, localized

Answer 4

Retinoblastoma

Question 5

What cancer disorder is caused by a defective mismatch repair pathway due to inherited mutations in one or more of the following genes: MSH2, MSH3, MSH6, MLH1, PMS1, PMS2

Answer 5

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Question 6

What cancer disorder has a risk of 1/200-1/500 5% of all colon cancers 7500 cases/year

Answer 6

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Question 7

What cancer disorder has the following phenotype:

- colorectal, endometrial, gastric, or urethelial carcinomas, glioblastomas

Answer 7

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Question 8

What cancer disorder has the following diagnosis:

- immunohistochemistry (looks at expression of TSG’s), blood test for germline mutation

Answer 8

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Question 9

What cancer disorder is an autosomal dominant familial cancer syndrome? Onset <50 y/o

Answer 9

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

Question 10

What cancer disorder is caused by defective nucleotide base excision repair pathway due to mutations in one or more of the following (8 total) genes: XPA, XPC, ERCC2, ERCC4, ERCC5. Defective translesion DNA replication

Answer 10

Xeroderma pigmentosum (children of the dark)

Question 11

What cancer disorder has a risk of 1/1,000,000?

Answer 11

Xeroderma pigmentosum

Question 12

What cancer disorder has the following phenotype:

- early multiple types of cancers

Answer 12

Xeroderma pigmentosum

Question 13

What cancer disorder is characteristic of 1000-fold increased risk of skin cancers (basal and squamous cell carcinomas)? Autosomal recessive

Answer 13

Xeroderma pigmentosum

Question 14

What cancer disorder is caused by defective translesion DNA replication and signaling to p53 due to mutation in the ATM gene?

Answer 14

Ataxia Telangiectasia

Question 15

What cancer disorder has the following phenotype:

• infant: incoordination, nystagmus,
• childhood: immune deficiencies (affects B and T cells), frequent infections, capillary expansions (Telangiectasis) easiest to see in bulbar conjunctivae, extremely sensitive to radiation, multiple cancers (leukemias, lymphomas, carcinomas)

Answer 15

Ataxia Telangiectasia

Question 16

What cancer disorder begins during infancy?

Answer 16

Ataxia Telangiectasia

Question 17

What autosomal recessive cancer disorder is caused by a mutation in WRN gene on chromosome 8 which codes for a pulative RecQ helicase, which unwinds DNA for homologous recombination and replication?

Answer 17

Werner Syndrome

Question 18

What cancer disorder has the following phenotype:

- premature aging, atherosclerosis, osteoporosis, diabetes, multiple cancers (sarcomas, melanomas)

Answer 18

Werner Syndrome

Question 19

What cancer disorder is caused by defective homologous recombinational repair pathway due to mutations in BRCA1/2?

Answer 19

Familial Breast and Ovarian Cancer

Question 20

What cancer disorder us the cause of 3% of breast cancers?

Answer 20

Familial Breast and Ovarian Cancer

Question 21

What cancer disorder has the following phenotype:

- premenopausal breast and ovarian carcinomas

Answer 21

Familial Breast and Ovarian Cancer

Question 22

What cancer disorder is autosomal dominant, BRCA2 protein is twice the size of BRCA1 protein. BRCA1 mutations are associated with onset at a younger age?

Answer 22

Familial Breast and Ovarian Cancer

Question 23

What autosomal recessive cancer disorder is caused by defective DNA replication and recombinational repair due to mutation in BLM gene that encodes a RecQ-like DNA helicase which unwinds the DNA in homologous recombination. BLM is also important in decatention?

Answer 23

Bloom Syndrome

Question 24

What cancer disorder has the following phenotype:
- short stature, narrow face with prominent nose, skin sensitivity to sun, butterfly shaped facial rash, immunodeficiency, cancer (esp. Leukemia), possible mental retardation

Answer 24

Bloom syndrome

Question 25

What cancer disorder is caused by defective recombinational DNA repair due to mutation in one or more of the following(12 total) genes which regulate interstrand DNA crosslink repair: FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG

Answer 25

Fanconi Anemia

Question 26

What cancer disorder has the following phenotype:

- short stature, myeloid cancers (leukemia), digit abnormalities, cafe au lait spots

Answer 26

Fanconi Anemia

Question 27

What autosomal dominant cancer disorder is caused by p53 point mutations resulting in inactivation?

Answer 27

Li-Fraumeni Syndrome

Question 28

What cancer disorder has the following phenotype:

- familial, susceptible to a wide variety of cancers?

Answer 28

Li-Fraumeni Syndrome