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genetic counseling midterm > Cancer GC > Flashcards

Cancer GC Flashcards

1
Q

Prevalence of BRCA1/2

A

1/400

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2
Q

BRCA 1 contributes…

A

20-40% to HBOC

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3
Q

BRCA 2 contributes…

A

10-30% to HBOC

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4
Q

Genomic mechanisms associated with BRCA 1 and 2

A 
Maintains genomic integrity
Damage repair
regulated gene expression
ubiquinates proteins
chromatin remodeling
cell cycle control
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5
Q

How is BRCA inherited

A

Autosomal dominant
reduced penetrance
transmission through males and females
maternal and paternal history are important

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6
Q

Features of HBOC

A
  • Multiple family members affected across several generations
  • BC under the age of 50
  • Epithelial ovarian cancer at any age
  • Male breast cancer
  • Multiple primary cancer diagnoses (esp bilateral BC)
  • Triple negative breast cancer under the age of 60 (estrogen/progesterone/her2neu)
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7
Q

Other cancer risk

A 
Male BC
prostate cancer
pancreatic cancer
melanoma
colon
endometrial
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8
Q

Risk for second breast cancer

A

up to 50% lifetime risk

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9
Q

ER/PR+

A

Selective estrogen receptor modulators: tamoxifan if pre-menopausal and Raloxifene if post-menopausal (can also use aromatase inhibitors)

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10
Q

Her-2/neu+

A

herceptin antibody

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11
Q

triple negative

A

ER/PR and her-2/neu receptor negative

very common in women with BRCA 1 mutations

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12
Q

BRCA 1

A
  • likely to be triple negative
  • higher risk for ovarian cancer (44%)
  • male breast cancer
  • slight risk for melanoma, pancreatic cancer and prostate cancer
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13
Q

BRCA 2

A
  • likely to be ER/PR+
  • risk for ovarian cancer (27%)
  • high risk for melanoma, pancreatic cancer and prostate cancer
  • risk for male breast cancer
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14
Q

Testing for BRCA 1 and 2

A

comprehensive= 85% detection, looks at 5 rearrangements
BART= additional rearrangements, only increases detection 3%
Single site is done if mutation is known
3 site is done for the most common AJ mutations

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15
Q

Claus

A

lifetime cancer risk assessment, if greater than 20% add MRI to the screen

strengths: includes age, mat and pat history, age of affected family members and ovarian cancer
limits: maximum of 2 primary or secondary relatives, cannot be male, only for unaffected probands, must have a family history, and cannot include other risk factors

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16
Q

Gail

A

5 year cancer risk assessment for tamoxifen or raloxifene prescription ( >1.6% risk)
Strengths: incorporates information other than the family history
Limits: can only include 2 1st degree relatives, no ages, no paternal, no ovarian cancer, only calculates risk for women >35 yo

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17
Q

Myriad

A

risk table
Strength: easy to use, readily available
limit: biased population, not exact (age or number of relatives), doesnt incorporate anything other than breast and ovarian

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18
Q

BRCAPro

A

Bayes
Limits: depends on current mutation frequency and penetrance data, assumes all affecteds are due to BRCA 1 and 2, does not use prostate or pancreatic cancer, computationally intensive

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19
Q

Couch and TC

A

Assess risk for unaffected to develop BC not for ovarian, captures pedigree and personal medical history

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20
Q

Cleveland Clinic for PTEN

A

risk calculation based on a questionare, score decides if patient should get testing for PTEN, a score of 3% or higher indicates

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21
Q

Lynch syndrome

A

Right sided, multiple tumors with MSI histology and immunohistochemical results indicating.

22
Q

Amsterdam I

A

3 family members with colon cancer (where 1 is a first degree relative of the other 2)
2 generations affected
1 colon cancer diagnosed prior to age 50
Rule out FAP

23
Q

Amsterdam II

A

Same as Amsterdam I, but the three family members can have any of the associated lynch cancers; endometrial, ovarian, gastric, small bowel, urothelial, CNS, pancreatic

24
Q

Lynch genes

A

MSH2: MSH6 only binds to this protein, if MSH2 is mutated will not show on IHC (MSH2 can also be hypermethylated, studies can confirm, but are rare)
MSH6
PMS2
MLH1: PMS1 only binds here
EPCAM: will show loss if MSH2 is missing.

25
Q

NCCN for Lynch

A

colonoscopy every 1-2 years starting 2-5 years before earliest onset
BSO and hysterectomy after reproduction
no strict screening for other associated cancers

26
Q

FCCTX

A

Familial colon cancer without MMR, MSI or IHC, but meets amsterdam I

27
Q

Guidlines for FCCTX

A

colonoscopy every 5 years starting 5-10 years prior to earliest diagnosis

28
Q

FAP

A

classic or attenuated, due to mutations in the APC gene or the MYH gene. very high cancer risk. 100-70%

29
Q

NCCN Guidelines for FAP

A

test, monitor, colonoscopy, colectomy and polypectomy, monitor with endoscopy every 6-12 months

30
Q

Li Fraumini

A

Rare AD caused by mutation in tp53, 50% risk of cancer by age 35. Sarcoma, brain, breast, adrenocortical carcinoma, leukemia.

31
Q

Cowden

A

AD, PTEN, breast, thyroid, endometrial, renal cell, melanoma, colorectal

32
Q

Peutz-Jegher

A

AD, STK11, colon, breast, pancreas, stomach, ovaries and others.

33
Q

high risk genes

A

BRCA1/2, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53, STK11, APC

34
Q

Moderate risk genes

A

ATM, PALB2, CHEK2

35
Q

Newer genes

A

BRIP1, BMPR1A, NBN, BARD1, RAD51C, RAD51D, CDKN

36
Q

Stages of grief

A 
Denial
Guilt
Depression
Anger
Acceptance
37
Q

indications for referral

A

suspected malformation syndrome (multiple, dysmorphic appearance, unusual birth marks or a single defect, idiopathic developmental, growth or cognitive delay),
second opinion
relatives have a known diagnosis

38
Q

goals of the evaluation

A 
establish a diagnosis
provide accurate individualized counseling (include recurrence risk)
estimate prognosis
provide treatment
formulate a care plan
obtain appropriate tests
initiate referrals as needed
offer support (always)
39
Q

defense mechanisms

A 
denial
intellectualization
regression
repression
sublimation
reaction formation
40
Q

coping mechanisms

A 
problem solving
support seeking
talking
doing 
withdrawal
41
Q

4 tenets of GC

A

the relationship is integral
patient autonomy is supported
patients are resilient
patient emotions make a difference

42
Q

Self-psychology

A

the self is dependent on maintaining a relational context and having experiences that fortify the self

43
Q

Self in relation

A

deemphasizes concepts of individuation and separation for ego formation (encourages self empathy)

44
Q

Family systems theory

A

we are all part of a family system and our responses to information will be influenced by the system at play in our family of origin as well as the cultural context in which we were raised. therefore individuals are best understood through family dynamics

45
Q

approaches to family therapy

A
  1. strategic
  2. structural
  3. multigenerational
46
Q

family systems illness model (genetic)

A

considers the unique challenges that genomic conditions present especially in at risk and asymptomatic individuals

47
Q

systematically based psychotheraputic model

A

includes the genogram

links individuals to interactional and intergenerational issues in the scope of a genetics issue

48
Q

early intervention services

A

0-3
developmental delay
premature/low birth weight/ postnatal illness or surgery
at risk groups
receive: physical, cognitive, social/emotional, communication and self help services
must have family participation
includes: family teaching model, transdisciplinary model, transition planning

49
Q

Part B

A

3-21
education based
-vision, hearing, gross and fine motor, speech and language, social/emotional.
diagnosis vs developmental delay
reevaluated every 5 years, includes transition
Families participate in goad identification

50
Q

Preschool services

A

3- age of beginner

  • must have significant delay
  • physical or mental disability
  • and need special education and related services
  • uses and IEP for school and aid services
  • wraparound available for children W/ DSM 5 diagnosis

genetic counseling midterm (1 decks)

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