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EXMD 504 Biology of Cancer > Inherited Predisposition to Cancer > Flashcards

Inherited Predisposition to Cancer Flashcards

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1
Q

What was the first hereditary cancer and tumor suppressor gene discovered?

A

Retinoblastoma

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2
Q

What are the characteristics of tumors caused by retinoblastoma?

A

Unilateral, bilateral, unifocal, multifocal

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3
Q

True or false: Retinoblastoma is rare and occurs at a young age

A

True

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4
Q

Leukocoria is a white __________ in the ________

A

Reflection; pupil

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5
Q

Strabismis is the eye ______________ due to tumor growth

A

Misalignment

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6
Q

Familial disease is consistent with ______________ ____________ mode of transmission of a highly ______________ genetic trait

A

Autosomal dominant; penetrant

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7
Q

Sporadic disease is associated with ____ family history

A

No

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8
Q

Which statement about autosomal dominant mode of inheritance is false?
a) 50% chance of inheriting the risk allele from carrier parent
b) Trait transmitted through different branch of the family
c) Carriers have an increased cancer risk

A

b)

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9
Q

Penetrance describes likelihood of developing cancer in risk __________ ___________

A

Allele carriers

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10
Q

What was Alfred K. Knudson’s hypothesis?

A

Explaining the development of familial and sporadic cases of retinoblastoma and disease presentation

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11
Q

What is the disease presentation of familial retinoblastoma?

A

Bilateral, multifocal

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12
Q

What is the disease presentation of sporadic retinoblastoma?

A

Unilateral, unifocal

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13
Q

Loss of pRB function in __________ cells results in loss of cell cycle regulation leading to ______________ cell division

A

Tumor; unprogrammed

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14
Q

What regulates pRB?

A

Phosphorylation

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15
Q

What happens if pRB is not phosphorylated?

A

It interacts with transcription factors and impedes their function

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16
Q

What does DNA sequencing in familial cases reveal?

A

Heterozygosity in blood DNA and homozygous mutated protein (one new hit)

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17
Q

What does DNA sequencing in sporadic cases reveal?

A

Wild type in blood DNA and homozygosity or heterozygosity in protein (two new hits)

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18
Q

True or false: Cancer predisposition could be heritable

A

True

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19
Q

Cancer predisposing genes encode proteins that behave as ________ __________________

A

Tumor suppressors

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20
Q

How many cancer predisposing genes have been identified having rare disease associated pathogenic variants?

A

Over 100 moderate-to-high risk genes

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21
Q

What is a germline variant?

A

A gene change in a reproductive cell that becomes incorporated into the DNA of every cell in the body of the offspring

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22
Q

What is somatic mutation?

A

An alteration in DNA that occurs after conception and is not present within the germline

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23
Q

True or false: Variants can cause cancer

A

False, they are benign

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24
Q

True or false: Pathogenic risk variants in cancer predisposing genes are common

A

False, they are rare

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25
Q

True or false: Some cancer predisposing genes have been associated with clinically well-defined disorders

A

True

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26
Q

Which of the following is not a feature of hereditary cancer?
a) Multiple primary tumors
b) Family history of cancer
c) Tumors with common histology
d) Younger-than-usual age at cancer diagnosis

A

c)

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27
Q

Where are cancer predisposing genes often located?

A

Autosomes

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28
Q

Cancer predisposing genes are more likely to exhibit which mode of inheritance?

A

Autosomal dominant

29
Q

In autosomal recessive mode of inheritance, carriers are ___________ for mutations and cancer risk alleles inherited from ________ parents

A

Biallelic; both

30
Q

Are cancer predisposing genes always tumor suppressors?

A

No

31
Q

Identify the following statements with either tumor suppressor or oncogene:
a) Mutations result in loss or reduction of function
b) Rarely identified
c) DNA damage repair

A

a) Tumor suppressor
b) Oncogene
c) Tumor suppressor

32
Q

True or false: Cancer predisposing genes inactivated by loss of function variants are more common than those genes modified by gain of function of variants

A

True

33
Q

Loss of function of BRCA1or BRCA2 tumor suppressor cancer predisposing gene can affect which DNA repair pathway?

A

CIN - Chromosomal Instability affecting whole or parts of chromosomes

34
Q

Loss of function of MSH2 tumor suppressor cancer predisposing gene can affect which DNA repair pathway?

A

MMR - mismatch repair DNA repair pathway affecting single base mismatches or short insertions/deletions

35
Q

True or false: Loss of function of tumor suppressor genes can affect molecular pathways critical for maintaining cell growth and function in cancer cells

A

True

36
Q

Cancer predisposing pathogenic variants in oncogenes often exhibit which pattern of inheritance?

A

Autosomal dominant

37
Q

RET is rendered constitutively __________ by cancer predisposing __________

A

Active; mutation

38
Q

What is the most frequent somatically mutated gene in cancer?

A

TP53

39
Q

True or false: TP53 is also a cancer predisposing gene

A

True

40
Q

Which of these does not describe Li-Fraumeni Syndrome?
a) Carriers at high risk of breast cancers, sarcomas and brain tumors
b) Penetrance is high for breast cancer at over 90%
c) Some carriers are sensitive to radiation

A

b)

41
Q

Genetic heterogeneity is a phenomenon in which a single __________ or ____________ __________ may be associated with a germline risk allele in any one of a multiple number of different genes

A

Phenotype; genetic disorder

42
Q

True or false: Different cancer predisposing genes can be implicated in the same hereditary cancer syndrome

A

True

43
Q

Hereditary breast cancer is a genetically ______________ disease involving autosomal ______________ mode of inheritance

A

Heterogeneous; dominant

44
Q

MLH1 and MLH2 are responsible for which cancer?

A

HNPCC

45
Q

Variable penetrance is the probability of developing cancer in __________ of pathogenic variants in cancer predisposing genes during their lifetime

A

Carriers

46
Q

What percent of heterozygous carriers of a RB1 loss of function pathogenic variant develop retinoblastoma?

A

95%

47
Q

Null alleles are associated with ____________ penetrance and _____________ tumors

A

Complete; bilateral

48
Q

Who has a higher risk for breast cancer than the general population?

A

Carriers

49
Q

Variable expressivity is a cancer predisposing gene that also confers _______________ risk to different cancer type

A

Increased

50
Q

True or false: Penetrance is higher for female ovarian cancer than breast cancer

A

False, penetrance is lower for female ovarian cancer than breast cancer

51
Q

True or false: Male carriers of pathogenic variants in BRCA1 or BRCA2 are at increased risk for breast cancer though penetrance is higher than for female carriers

A

False, penetrance is lower than for female carriers

52
Q

___________ of RB1 are at significantly increased risk for other cancer types such as _______ cancer and all neoplasms

A

Carriers; lung

53
Q

Genotype-phenotype correlation is a statistical relationship between ___________ and ________________ predictive of a physical trait in carriers of pathogenic variants in cancer predisposing genes

A

Genotype; phenotype

54
Q

Germline RB1 confer a _______ risk for developing retinoblastoma

A

High

55
Q

85-95% of germline RB1 tumors result in premature ___________ codon

A

Termination

56
Q

Which cancer has the lowest risk and the highest carrier frequency?

A

Thyroid cancer

57
Q

True or false: A small percent of female breast cancer cases carry a pathogenic variant in a known high risk cancer predisposing gene

A

True

58
Q

Chances of carrying a pathogenic variant in BRCA1 or BRCA2 depend on what factors?

A

Personal history of cancer, family history of cancer, ancestry

59
Q

True or false: Carrier frequency of pathogenic variants is higher for the general population than Ashkenazi Jewish

A

False, it is higher for Ashkenazi Jewish people than the general population

60
Q

Why do 80% of BRCA1/BRCA2 PV carriers in the French Canadian cancer families from Quebec harbor recurring pathogenic variants?

A

Shared ancestors

61
Q

What would be an example of locus identification in the case of Rb?

A

Rb locus located within a chromosomal region and karyotype of lymphocyte DNA is examined

62
Q

What would be an example of identification of candidates in the case of Rb?

A

Mapping and cloning of chromosomes to identify deletions

63
Q

What would be an example of functional assays in the case of Rb?

A

Cancer cell line harboring mutation transfected with wild type gene and examine results (suppression of tumorigenic phenotypes)

64
Q

In medical genetics, penetrance of a disease-causing mutation is the proportion of individuals with the ____________ who exhibit clinical ____________

A

Mutation; symptoms

65
Q

What are proven surveillance methods for early breast cancer?

A

Mammography and MRI

66
Q

What is a proven method that reduces the risk of breast cancer?

A

Mastectomy

67
Q

What is a proven method to reduce risk of ovarian cancer?

A

Salpingo-oophorectomy

68
Q

Genetic testing improves risk _____________ in both _______________ and cancer affected women

A

Assessment; asymptomatic

69
Q

What is the name of the new cancer treatment?

A

Olaparib

EXMD 504 Biology of Cancer (5 decks)

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