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Cancer Genetics > Colorectal Cancer > Flashcards

Colorectal Cancer Flashcards

1
Q

What are the predominant risk factors for CRC?

A 
aging
personal hx ofr CRC or adenomas
high fat and charred meat diet
inflammatory bowel disease
FHx of CRC
hereditary cancer syndromes
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2
Q

General population risk of CRC:

A

6%

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3
Q

What’s your risk for CRC if you have a personal hx?

A

15-20%

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4
Q

CRC risk if you have inflammatory bowel disease?

A

15-40%

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5
Q

CRC risk if you have a HNPCC (Lynch) mutation?

A

60-80%

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6
Q

CRC risk if you have FAP?

A

> 95% (due to sheer number of polyps)

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7
Q

What’s your risk if no FHX of CRC?

A

2%

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8
Q

CRC risk with one 1st degree relative?

A

6%

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9
Q

CRC risk with one 1st and one 2nd degree relative w CRC?

A

8%

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10
Q

CRC risk if you have. a1st degree relative dx <45y?

A

10%

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11
Q

CRC risk if you have 2 1st degree w/ CRC?

A

17%

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12
Q

What % of CRC is sporadci?

A

65-85%

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13
Q

What % of CRC is familial?

A

10-30%

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14
Q

What % of CRC is caused by Lynch syndrome? What types of genes are these?

A

2-3%, MMR

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15
Q

what % of CRC is caused by FAP?

A

1%

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16
Q

At what stage do polyps become malginant?

A

once they become adenocarcinomas

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17
Q

What stages are before adenocarcinoma in the carcinogenesis of CRC?

A

hyperproliferation
small polyp
large polyp
severe dysplasia

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18
Q

What’s the most common type of polyp? malignant?

A

hyperplastic, rarely

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19
Q

What types of polyps have low malignant potential?

A

imflammatory and hamartomatous

20
Q

What types of polyps are hamartomatous?

A

juvenile and Peutz-Jeghers

21
Q

What types o polyps are usually the most malignant?

A

adenomatous

22
Q

What gene is associated with FAP?

A

APC

23
Q

What’s the penetrance of APC mutation for polyps and cancer w/o management?

A

roughly 100

24
Q

What other cancers are ppl with FAP at risk for?

A 
upper GI
desmoid
osteoma
thryoid
brain
hepatoblastoma (ped liver)
25
Q

What else can be present with FAP?

A

CHRPE

26
Q

What areas, after colon, most commonly develop cancer in FAP?

A

small intestine and upper GI

27
Q

What’s different about aFAP and FAP?

A

aFAP:

  • more moderate phenotype
  • later onset (CRC age 50y)
  • not associated with chrpe
  • UGI lesions
28
Q

How is FAP inherited? What % of mutations are de novo?

A

AD

25%

29
Q

How do you surveil aFAP? FAP?

A 
full colonoscopy (later teens)
colonoscopy or sigmoidoscopy (age 10-15)
30
Q

What are the characteristics of MUTYH-associated polyposis?

A

15

31
Q

How is MUTYH-associated polyposis inherited?

A

AR

30% have identifiable mutations

32
Q

What are some other polyposis syndromes?

A

Hereditary mixed poylposis syndrome
Sessile serrated poylposis
Oligodontia-CRC syndrome

33
Q

What 4 MMR genes are associated with Lynch syndrome? What other gene is involved?

A

MLH1, MSH2, PMS2, MSH6, EPCAM

34
Q

Around what age does somenoe with Lynch syndrome get diagnosed with CRC?

A

45y

35
Q

Mutations in MLH1 and MSH2 may also result in cancers of the:

A

endometrium and ovaries

36
Q

What % of people with Lynch syndrome present with synchronous CRC? Metachronous?

A

20% syn

40% met. within 10 yrs

37
Q

The Amsterdam criteria is also known as the:

A

3-2-1 rule

38
Q

Describe the 3-2-1 rule.

A
  • 3 or more relatives with HNPCC associated cancer
  • At least two successive generations affected
  • one or more cancer by the age of 50
39
Q

What two things are reported on tumor studies?

A

MSI and IHC

40
Q

What type of MSI is more prevalent in Lynch syndrome?

A

high

41
Q

If MLH1 and PSM2 are both absent from tumor then it is most likely a germline mutation in:

A

MLH1

42
Q

If MSH2 and MSH6 are both absent from tumor then it is most likely a germline mutation in:

A

MSH2 or EPCAM

43
Q

If MSH6 is absent from tumor then it is most likely a germline mutation in:

A

MSH6

44
Q

If PMS2 is absent from tumor then it is most likely a germline mutation in:

A

PMS2

45
Q

Roughly 90% of Lynch families have mutations in:

A

MLH1 or MSH2

46
Q

What types of testing is done for GI cancers?

A

mostly cover Polyposis and Lynch, TP53 included fro Li-Fraumeni

Cancer Genetics (3 decks)

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