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BUPA Basic Medical Sciences > Neoplasia/Pedigrees > Flashcards

Neoplasia/Pedigrees Flashcards

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USMLE® Step 1 flashcards
1
Q

Progressive neurological/lysosomal disease; associated with Ashkenazi Jews; missing enzyme that breaks down lipids. Type?

A

Tay-Sachs Disease; autosomal recessive

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2
Q

Disease that causes increased intestinal absorption of iron. Type?

A

Hereditary hemochromatosis; autosomal recessive

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3
Q

Condition of connective tissue; high rate of isolated cases from mutations. Type?

A

Marfan syndrome; autosomal dominant

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4
Q

Why do X-linked Dominant diseases in females present with milder symptoms?

A

X-inactivation

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5
Q

Autosomal dominant genetic disorder characterized by brittle bones; type?

A

Osteogenesis imperfecta; mosaicism

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6
Q

Disorder with progressive amplification of nucleotide repeats in successive generations; maternal anticipation. Type?

A

Fragile x syndrome; nucleotide repeat disorder

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7
Q

Disease characterized by developmental delay, hypotonia, and hyperphagia. Lack of expression of paternal genes. Type?

A

Prader-Willie Syndrome; genomic imprinting

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8
Q

Disease characterized by developmental delay, movement disorder, and seizures. Lack of expression of maternal allele. Type?

A

Angelman Syndrome; genomic imprinting

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9
Q

What are some risks for multifactoral inheritance?

A

Close affected relative
Several affected relatives
Sex-specific to patient’s gender

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10
Q

What are the recurrence rate and risk characteristics of pyloric stenosis?

A

Recurrence rate is higher with females (more likely to be passed on to offspring)
Males are more susceptible

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11
Q

Mutation of this enzyme results in retinoblastoma

A

RB

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12
Q

Mutation of this enzyme results in Li-Fraumeni Syndrome

A

TP53

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13
Q

Mutations in these enzymes lead to breast and ovarian cancers

A

BRCA1/BRCA2

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14
Q

What are the 3 steps for tumor formation?

A

a. Breakthrough phase - single cell develops a specific driver-gene mutation —> proliferates abnormally
b. Expansion phase - cell develops and additional driver-gene mutation that gives rise to a benign tumor
c. Invasive phase - cell develops an additional driver-gene mutation in at least one pathway, enabling it to invade surrounding tissues

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15
Q

What are the 6 hallmarks of cancer?

A 
Uncontrolled growth
Evading growth suppressors
Activating invasion and metastasis
Enabling replication immortality 
Inducing angiogenesis
Resisting cell death
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16
Q

What are the two important tumor suppressors?

A

TGF-beta, P53

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17
Q

What are the two important oncogenes?

A

EGF, PDGF

18
Q

How does metastasis occur?

A

i. Mutated cells start to loosen intercellular junctions and degrade collagen
1) Normal cells die when they lose contact with surrounding cells or basement membrane - not cancer cells
ii. The adhere to and invade the basement membrane
iii. Eventually pass through extracellular matrix and enter a blood vessel where that can be deposited in other parts of the body
iv. Leads to angiogenesis and tumor growth

19
Q

What can lead to replication immortality in cancer cells?

A

Hyperactivation of telomerase (or abnormal DNA replication)

20
Q

What cancer cell signaling molecule is responsible for angiogenesis?

A

VEGF

21
Q

What two receptors are important for the extrinsic pathway for apoptosis?

A

Fas and TNF

22
Q

Tumors express what receptor to “turn off” immune cells?

A

PD-L1

23
Q

What HAS to be inactivated for replication immortality to occur?

A

P53

24
Q

What are some risks for breast/ovarian hereditary cancers?

A
  • breast cancer < 45
  • ovarian cancer
  • male breast cancer
  • Ashkenazi Jewish ancestry w/ HBOC-associated cancer
  • BRCA mutation in family
25
Q

How many mutations on the BRCA genes are associated with Ashkenazi Jewish ancestry?

A

3 (95% chance that one of these 3 is the cause in AJ cancer patients)

26
Q

What affect does BRCA have on breast and ovarian cancer?

A
  • drastically increases the chances of cancer (85% of BC and 44% of OC by age 70)
  • increases risk for secondary cancers
27
Q

What is the recommendation for OC prevention for those with the BRCA gene?

A

Bilateral oopherectomy after child bearing (no later than age 40)

28
Q

What are some preventative steps to reducing the risks of HBOC?

A
  • oral contraceptive (decreases risk of OC but increases risk of BC)
  • tamoxifen (blocks estrogen)
  • mastectomy
  • oophorectomy
29
Q

What are the 5 Lynch genes associated with colon cancer?

A 
MLH1
MSH2
MSH6
PMS2
EPCAM
30
Q

What are the risks for hereditary colorectal cancer?

A
  • colorectal or endometrial cancer > 45
  • associated cancers in family
  • identified mutation in family
  • right-sided, proximal/ascending colon cancer
31
Q

What cancers does Lynch syndrome overlap with?

A

Ovarian/endometrial cancers

NOT UTERINE

32
Q

What is the 3:2:1 rule of Amsterdam Criteria for Lynch syndrome?

A
  • 3 relatives with CRC
  • 2 successive generations
  • 1 diagnosis before age 50
33
Q

What are the 3 methods of tumor testing for Lynch Syndrome?

A
  • Microsatellite Instability (MSI) - looks as stability of certain proteins
  • Immunohistochemistry - stain for presence/absence of Lynch gene
  • methylation analysis
34
Q

What do the mutation of Lynch syndrome affect?

A

Mismatch repair mechanisms on DNA

35
Q

What are some screening/preventative interventions to take for Lynch syndrome?

A

Colonoscopy every 1-2 years
Upper GI every 3-5 years
Urinalysis with cytology annually
Hysterectomy and bilateral salpingo-oopherectomy after child bearing

36
Q

What gene is involved with Familial Adenomatous Polyposis?

A

APC

37
Q

What are some characteristics of FAP?

A
  • 30% de novo rate

- 100% penetrance

38
Q

What other cancers are associated with FAP?

A 
Small intestine, liver, and stomach
NOT OVARIAN (unlike Lynch syndrome)
39
Q

What are some differences between FAP and Lynch?

A

FAP:

  • 100s of polyps
  • risk of stomach/small bowel/liver cancer
  • 1 gene: APC

Lynch:

  • few polyps but not in the 100s
  • risk of endometrial/ovarian
  • 5 main genes
40
Q

How is FAP managed?

A
  • Flex sigmoidoscopy annually
  • Prophylactic total colectomy
  • NSAIDs
  • surveillance for extra-colonic tumors
41
Q

What are the characteristics of AFAP (attenuated FAP)?

A
  • fewer polyps than classic FAP
  • cancer risk 80-100%
  • two possible mutations: APC (dominant) and MUTYH (recessive)

BUPA Basic Medical Sciences (3 decks)

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