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Genetics Final > Case 1: FAP > Flashcards

Case 1: FAP Flashcards

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Biology 101 flashcards
1
Q

What is dyspnea?

A

shortness of breath

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2
Q

palpitations

A

can equal “beating out of chest”

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3
Q

is 3 months chronic?

A

yes

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4
Q

C/C: Fatigue that is affecting acitivities of daily living (ADL), dizziness, exacerbaed by positional change, dyspnea, palpitation, chronic

Differential

A

CV- CHF, Coronary Arrtery Disease

Endocrine- Hypothyroid

GI - Crohn’s, IBS, Malabsorption, Colon
Cancer

Hematologic- Anemia, cancer related

Psychiatric- Depression, substance-abuse related, chronic fatigue syndrome,

Sleep disordr

MEdication Disordder

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5
Q

What is Gardner syndrome

A

autosomal dominant with numerous ademaous polyps like FAP, but comes with OSTEOMAS AND OTHER SOFT TISSUE TUMORS

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6
Q

What is Turcot Syndrome

A

autosomal dominant and has multiple polyps but comes with CNS TUMORS

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7
Q

What is Peutz-Jeghers Syndrome

A

autosomal dominant and has HAMARTOMATOUS POLYPS (benignt) of GI tract, but increased probabilty of ADENOCARCINOMA of the GI

MELANOTIC ACCUMULATION IN THE MOUTH, LIPS, HANDS AND GENITLA

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8
Q

How is FAP inherited

A

Autosomal Dominant manner and highly penetrant

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9
Q

What is the utation in FAP

A

adenomatous polyposis coli, APC

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10
Q

what chromosome is mutated?

A

APC gene. Chromosome 5q are the cause of

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11
Q

How many exons does this gene have?

A

15 exons

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12
Q

What does the somatic mutation of APC gene cause

A

early events in teh majority of sporadic colorectal cancer and adenomas

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13
Q

What are mutations in the middle of the gene (codons 1250-1464) ass. with>

A

profuse polyposis (>1000 polyps)

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14
Q

What is an extracolonic manifestion

A

Thyroid cancer

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15
Q

Why doesn’t site of mutation in APC gene not accurately predit a pheontype ?

A

b/c of additional factors, sucha s modfieir genes

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16
Q

What is the % of successful detection of APC mutation in patients who have classic FAP?

A

80-90%

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17
Q

What do most mutations in the APC gene lead to?

A

protein truncation and protein-truncation assay was OG used to deterct altered protien products using RNA and DNA from peripheral blood lymphs

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18
Q

Where is the non-truncating missense mutation ?

A

caused by a single nucleotide subsittuion in teh genet at 5qI1307K, in approx 6^ Ashkenazi Jews

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19
Q

What does the variant in Ashkenazi jews lead to

A

carriers 10-15% in carriers

20
Q

Affected parents have what % chance of passing?

A

50% chance of passign the APC mutation to their children

21
Q

Do de novo mutations have risk of inhertince to progeny?

A

no

11-20% with de novo have somatic mosaicism of APC mutaiton

22
Q

where is mosaism identified/

A

in somatic tissue cells but not in periphearl lymphs

phenotype is less severe

23
Q

what is the incidence of FAP?

A

2/ million

24
Q

what is the prevalnace of FAP?

A

4/ million

25
Q

what is the estimated lifteime risk of FAP?

A

1 / 8,000 to 15,000 births

26
Q

Does FAP affect both sex equally?

A

YES

27
Q

What is the treatment for APC mutation at age 10-12; ad families with clinical diagnosis of FAP but no Identified APC mutaiton

A

annual flexible sigmoidoscopy

28
Q

Is the risk for duodenal polyposis and carcinoma high in FAP?

A

yes, therefore it is recommended taht pateitns with AP undergo intial endoscorpy around 20 years old

Screening dependent upon the severity of duondenal polyposis

29
Q

Prophylactic surgery for the prevention of the colorectal cancer in pateints who have FAP i when?

A

either at diagnosis or before 25 years of age

30
Q

What are the three main surgical otpions include?

A
  1. Total proctocolectomy (TPC) with permanent ileostomy
  2. Subtotal colectomy with ileorectal anastomosis,
  3. Proctocolectomy with ilean pouch-anal anastomosis
31
Q

What provides the lowest risk of GI cancer and has the lowest risk for compliceation>

A

TPC + ileostomy

NOt the first choice for patietn who have FAP b/c of disadvantages ass. witha perment ileostomy

32
Q

Affected parents have what % chance of passing?

A

50% chance of passign the APC mutation to their children

33
Q

Do de novo mutations have risk of inhertince to progeny?

A

no

11-20% with de novo have somatic mosaicism of APC mutaiton

34
Q

where is mosaism identified/

A

in somatic tissue cells but not in periphearl lymphs

phenotype is less severe

35
Q

what is the incidence of FAP?

A

2/ million

36
Q

what is the prevalnace of FAP?

A

4/ million

37
Q

what is the estimated lifteime risk of FAP?

A

1 in 8,000 to 15,000 births

38
Q

Does FAP affect both sex equally?

A

YES

39
Q

What is the treatment for APC mutation at age 10-12; ad families with clinical diagnosis of FAP but no Identified APC mutaiton

A

annual flexible sigmoidoscopy

40
Q

Is the risk for duodenal polyposis and carcinoma high in FAP?

A

yes, therefore it is recommended taht pateitns with AP undergo intial endoscorpy around 20 years old

Screenign dependent upon the severity of duondenal polyposis

41
Q

Prophylactic surgery for the prevention of the colorectal cancer in pateints who have FAP i when?

A

either at diagnosis or before 25 years of age

42
Q

What are the three main surgical otpions include?

A
  1. Total proctocolectomy (TPC) with permanent ileostomy
  2. Subtotal colectomy with ileorectal anastomosis,
  3. Proctocolectomy with ilean pouch-anal anastomosis
43
Q

What provides the lowest risk of GI cancer and has the lowest risk for compliceation>

A

TPC + ileostomy

NOt the first choice for patietn who have FAP b/c of disadvantages ass. witha perment ileostomy

44
Q

What is he translational research for FAP

A

nonsurgical managemetn

goal is to use chemo-preventivee agens to delay or avoid surgery

45
Q

What drugs are being studied

A

inhibitors of cellular proliferation such as acetyslaicicylic acid (ASA)

NSAIDS,
5-amionsalicylates,
COX-2 inhibitors being teh most promisng class of drugs

46
Q

when is non-surgical therapy preferred?

A

intra-abdominal desmoid tumors

First line drugs : NSAIDS and anti-estrogen agents

If those agents fail, then alpha or cytotoxic chemotherapy agents are used, priamrly in rapid growing or life-threatening tumors

Genetics Final (8 decks)

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