Cancer Genetics Flashcards

1
Q

Cancer is a _____ process

A

Cancer is a genetic process!

  • changes/variations occur in genes over time
  • lifestyle, exposures, internal factors
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2
Q

The majority of caner is ______ 10% of cancer is ________ and 30% of cancer is _______-

A

the majority of cancer is sporadic, 10% of cancer is herditary and 30% of cancer is familial

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3
Q

WHat are the 2 kinds of herditary predispositions?

A

Germline: autosomal dominant

SOmatic: ‘two hit’

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4
Q

What are some red flags in a family history what the cancer may be hereditary

A

young age of dx

many affected family members

more than 1 generation

pairing of cancers in the family

more than one cancer in the same person

Ashkenazi Jewish heritage

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5
Q

what is the role of a cancer genetic counselor?

A

explore the psychological impact of genetic testing

work closely with insurance companies

address gentic discrimination concerns

introduce medical management options

talk about implications for family members

discuss the option of DNA banking

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6
Q

what are different testing methods

A

single site analsis

multisite analysis (Ashkenazi jew)

sequencing

deletion/duplication testing

Next Gen Sequencing: gene panels, whole exome, whole genome

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7
Q

What is Next Generation Sequencing?

A
  • massive parallel sequencing
  • create 100s to 1000s of reads per base pair
  • provides enhanced resolution throughput and speed
  • generates large amounts of data quickly in a cost effective manner
  • sequence multiple genes simultaneously
  • possible to detect mosaicism
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8
Q

Why would you use a NGS Multi-gene panel test?

A
  • efficient sequencing of multiple genes
  • many genes implicated in each cancer: testing multiple genes simultaneously can be more time and cost effective
  • overlapping clinical presentation among different hereditary cancer syndromes
  • many patients have negative BRCA1/2 genetic testing
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9
Q

what are the benefits to genetic testing?

A

provides risk info

provides infor useful for medical management

leads to early cancer prevention and detection

may relieve anxiety

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10
Q

what are the limitations of genetic testing

A

not able to detect all causes of hereditary cancer

continued risk for sporadic cancer

some management strategies not proven effective

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11
Q

What does a “positive” variant mean?

“inconclusive”

“negative”

A

positive: deleterious mutation, variant, likely pathogenic-interpret with caution
inconclsive: variant of undetermined significance
negative: variant, liely benign-interpret with caution. variant benign (polymorphism) not reported

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12
Q

What is the Genetic Information nondiscrimination Act (GINA)

A
  • federal law passed in 2008 that protects individuals from genetic discrimination in health insuance and employment. does not apply to life insurance
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13
Q

How may germline mutations influence cancer treatment?

A
  • Immunotherpay for colorectal cancer:
    • checkpoint inhibitors (PD1)
    • MSI-high tumors have many tumor infiltrating lymphocytes
  • PARP inhibition in BRCA+ excision repair
    • inhibition of base excision repair
    • synthetic lethality in homologous recombination
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14
Q

who is the best person in a family to start genetic testing?

A

the most severly affected, youngest onset or more rare tumor type

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15
Q

initial gene testing may include____________ if multiple genes are implicated in a syndrome a ________ may be more cost effective

A

initial gene testing may include full gene sequencing and deletion/duplication analysis. if multiple genes are implicated in a syndrome, a next generation sequencing panel may be more cost effective as a front line test.

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16
Q

Once a hereditary cancer gene mutation is discovered in the family, subsequent family members can have ______

A

single site analysis for the known variant

17
Q

what is the purpose of hereditary cancer gene testing?

A

prevention of cancer, early detection of cancer and enhanced treatment of cancer

18
Q

what does a negative gene test mean/not mean?

A

it does not necessarily mean the patient has no increased risk for cancer. results must be interpreted in light of personal and family history.