Cancer Disorders Flashcards Preview

Genetics & Neoplasia > Cancer Disorders > Flashcards

Flashcards in Cancer Disorders Deck (29):
0

What are etologic factors associated with leukemias?

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

1

What are viruses associated with lymphomas.

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

2

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

Retinoblastoma

3

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

Retinoblastoma

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

Retinoblastoma

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

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

6

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

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

7

What cancer disorder has the following phenotype:
- colorectal, endometrial, gastric, or urethelial carcinomas, glioblastomas

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

8

What cancer disorder has the following diagnosis:
- immunohistochemistry (looks at expression of TSG's), blood test for germline mutation

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

9

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

Hereditary Non-polyposis Colorectal Cancer (HNPCC)

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

Xeroderma pigmentosum (children of the dark)

11

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

Xeroderma pigmentosum

12

What cancer disorder has the following phenotype:
- early multiple types of cancers

Xeroderma pigmentosum

13

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

Xeroderma pigmentosum

14

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

Ataxia Telangiectasia

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)

Ataxia Telangiectasia

16

What cancer disorder begins during infancy?

Ataxia Telangiectasia

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?

Werner Syndrome

18

What cancer disorder has the following phenotype:
- premature aging, atherosclerosis, osteoporosis, diabetes, multiple cancers (sarcomas, melanomas)

Werner Syndrome

19

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

Familial Breast and Ovarian Cancer

20

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

Familial Breast and Ovarian Cancer

21

What cancer disorder has the following phenotype:
- premenopausal breast and ovarian carcinomas

Familial Breast and Ovarian Cancer

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?

Familial Breast and Ovarian Cancer

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?

Bloom Syndrome

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

Bloom syndrome

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

Fanconi Anemia

26

What cancer disorder has the following phenotype:
- short stature, myeloid cancers (leukemia), digit abnormalities, cafe au lait spots

Fanconi Anemia

27

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

Li-Fraumeni Syndrome

28

What cancer disorder has the following phenotype:
- familial, susceptible to a wide variety of cancers?

Li-Fraumeni Syndrome