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Block 4 - Emergency Medicine > A+P: Hereditary CA > Flashcards

A+P: Hereditary CA Flashcards

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1
Q

Biggest RFs for CA

A
  • age
  • environmental exposures
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2
Q

Categories of Cancer

A
  1. Sporadic
  2. Familial
  3. Hereditary
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3
Q

Describe Sporadic CA

A
  • occur by chance or related to environmental factors
  • general population risk
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4
Q

Describe Familial CA

A
  • multiple genes & environmental factors may be involved
  • some incr CA risk
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5
Q

Describe Hereditary CA

A
  • gene mutation is inherited in family
  • significantly incr CA risk
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6
Q

Sporadic Cancer Facts

A
  • Common at older ages
  • “Common CAs”
  • only 1-2 affected in a family
  • CAs w/ a clear cause
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7
Q

What two Hereditary CA germline mutations cause CA predisposition?

A

oncogenes & tumor suppressor genes

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8
Q

Describe oncogenes.

A
  • promote cell growth & survival
    accelerator
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9
Q

Describe tumor suppressor genes

A
  • regulate cell growth, DNA repair, cell cycle
    brakes
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10
Q

What oncogenes are linked to hereditary CA syndromes?

A
  • CDK4
  • KIT
  • MET
  • RET
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11
Q

CDK4 gene incr risk of what CA?

A

cell cycle regulator malignant melanoma syndrome

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12
Q

KIT gene incr risk of what CA?

A

tyrosine kinase-familial GI stromal tumor

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13
Q

MET gene incr risk of what CA?

A

tyrosine kinase - familial papillary renal cell carcinoma

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14
Q

RET gene incr risk of what CA?

A

tyrosine kinase - multiple endocrine neoplasia

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15
Q

Which happens more somatic or germline?

A

somatic
– mechanisms activating oncogenes

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16
Q

Various functions of tumor suppressor genes?

A
  • regulation of cell cycle
  • growth inhibition through cell contact
  • repair of DNA damage/chromosome breakage
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17
Q

Tumor suppressor genes have a loss of function from one or both copies of gene?

A

BOTH

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18
Q

What is the majority cause of hereditary CA conditions?

A

tumor suppressor genes

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19
Q

Hereditary CA Factors

A
  • Young CAs
  • Rare CAs
  • Multiple CAs/tumors
  • Multiple related CAs
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20
Q

Describe Hereditary CA: Young Cancers

A
  • breast 50 or under
  • colorectal or endometrial under 50
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21
Q

Describe Hereditary CA: Rare Cancers

A
  • male breast
  • pancreatic
  • ovarian
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22
Q

Describe Hereditary CA: Multiple CAs/tumors

A
  • bilateral CAs
  • multiple primaries
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23
Q

Describe Hereditary CA: Multiple related CAs

A
  • breast, ovarian, pancreatic, prostate
  • colorectal, endometrial
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24
Q

Most hereditary CAs have what pattern of inheritance?

A

autosomal dominant & reduce penetrance

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25
Q

List the 6 genes related to hereditary breast CA

A
  1. HBOC - BRCA 1 & 2
  2. Li - Famumeni Syndrome (TP53)
  3. Cowden Synd (PTEN)
  4. PALB2
  5. Hereditary Diffuse Gastric CA (CDH1)
  6. Peutz-Jeghers Synd (STK11)
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26
Q

High risk genes (40-60%)

A
  • BRCA 1 & 2
  • CDH1
  • PALB2
  • PTEN
  • STK11
  • TP53
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27
Q

Moderate risk genes (17-40%)

A
  • ATM
  • BARD1
  • CHEK2
  • NF1
  • RAD51C/D
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28
Q

Elevated Risk Genes (<15%)

A
  • Lynch Synd
  • BRIP1
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29
Q

HBOC - BRAC 1/2 gene increases breast CA risk by???

A

> 60%

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30
Q

Management of breast cancer with BRCA genes?

A
  • Annual breast MRI starting at age 25-29
  • mammo at age 30
    RRM
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31
Q

Which BRCA gene carries a highest risk for breast, prostate, & pancreatic CAs?

A

BRCA 2

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32
Q

Management of male breast CA w/ BRCA genes

A

Annual mammo starting at age 50

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33
Q

Management of Ovarian CA in BRCA 1 gene

A

RRSO b/t 35 - 40yo

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34
Q

Management of Ovarian CA in BRCA 2 gene

A

RRSO b/t 40 - 45yo

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35
Q

Management of pancreatic CA for both BRCA genes

A

Screen those w/ FHx of pancreatic CA

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36
Q

Management of prostate CA for both BRCA genes

A

Screening starting at age 40

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37
Q

Which BRCA gene has an incr risk of melanoma?

A

BRCA 2

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38
Q

Management of melanoma in BRCA 2 gene

A

Annual full-body skin exam & minimizing UV exposure

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39
Q

PALB2 incr risk of breast CA by what %?

A

41 - 60%

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40
Q

Management of breast CA w/ PALB2 gene?

A

Annual breast MRI & mammo at age 30
RRM

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41
Q

Li - Faumeni Syndrome (TP53) incr the risk of breast cancer by what %?

A

> 60%

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42
Q

Managment of breast CA for Li-Fraumeni Synd

A

Annual breast MRI starting at age 20-29 & mammo at age 30

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43
Q

Li – Fraumeni Syndrome – TP53 increases the risk of what different CAs compared to other genes

A
  • Soft tissue sarcoma
  • osteosarcoma
  • CNS tumor
  • Adrenocortical carcinoma
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44
Q

Many other CAs have been assoc. w/ LFS, especially__.

A

melanoma, colorectal, gastric & prostate

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45
Q

Hereditary Diffuse Gastric Cancer – CDH1 incr risk for what CAs

A
  • Lobular Breast CA
  • Diffuse Gastric CA
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46
Q

Hereditary Diffuse Gastric Cancer – CDH1 incr breast CA by what %?

A

36 - 55%

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47
Q

Management of Hereditary Diffuse Gastric Cancer – CDH1 breast CA

A

Annual breast MRI & mammo at age 30

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48
Q

Do males or females have a higher risk of gastric CA from Hereditary Diffuse Gastric CA – CDH1

A

Males

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49
Q

Incr risk for brain tumors cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease), may be pathognomonic, What gene is this?

A

Cowden Syndrome - PTEN

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50
Q

Cowden Synd (PTEN) incr risk of what CAs

A
  • breast
  • thyroid
  • colorectal
  • endometrial
  • renal
  • melanoma
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51
Q

Cowden Syndrome - PTEN incr risk of breast CA by what %

A

40 -60%

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52
Q

Management of breast CA w/ Cowden Synd (PTEN)

A

Annual breast MRI & mammo starting at age 30

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53
Q

Management of Cowden Syndrome - PTEN thyroid CA

A

Annual thyroid US at age 7

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54
Q

Management of Cowden Syndrome - PTEN colorectal CA

A

Colonoscopy every 5yrs starting at age 35

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55
Q

Management of Cowden Syndrome - PTEN endometrial CA

A
  • Start screening by age 35
  • Hysterectomy
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56
Q

Management of Cowden Syndrome - PTEN renal CA

A
  • Renal US at 40, repeated
  • every 1-2 yrs
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57
Q

Management of Cowden Syndrome - PTEN melanoma

A

annual derm exam

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58
Q

Non Cancerous Features of PTEN (5)

A
  • Autism Spectrum d/o or developmental delay
  • Macrocephaly
  • Penile freckling (Bannayan-Riley-Ruvalcaba synd)
  • Derm features
  • Vascular features
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59
Q

Describe derm features seen w/ PTEN?

A
  • Trichilemmomas
  • Papillomatous lesions
  • Acral keratoses
  • Mucosal lesions
  • Lipomas
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60
Q

Describe vascular features seen w/ PTEN?

A
  • Arteriovenous malformations
  • hemangiomas
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61
Q

2 Diagnostic criteria for Peutz-Jeghers synd (STK11)

A
  • 2 or more Peutz-Jeghers-type hamartomatous polyps of the GI tract
  • Mucocutaneous hyperpigmentation of mouth, lips, nose, eyes, genitalia, or fingers
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62
Q

Peutz-Jeghers syndrome - (STK11) NOTE

A

Mucocutaneous pigmentation (CAN FADE) & hyperpigmented macules

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63
Q

ATM incr risk of what CAs

A
  • breast
  • contralateral breast
  • ovarian
  • pancreatic
  • prostate
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64
Q

BRIP1 incr the risk of what CAs

A
  • breast
  • ovarian
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65
Q

RAD51/RAD51D incr risk of what CAs

A
  • breast
  • contralateral breast CA (10yr cumulative risk)
  • ovarian
66
Q

Familial Malignant Melanoma genes (6)

A
  • CDKN2A
  • CDK4
  • BRCA 2
  • BAP1
  • MITF
  • PTEN
67
Q

Familial Malignant Melanoma Indications

A
  • clinical & FHx
  • genetic counseling if 3 or more invasive cutaneous melanomas or mix of invasive melanoma, pancreatic CA &/or astrocytoma in person or family
  • invasive in 1st degree relative
68
Q

Lifetime risk of developing cutaneous melanoma in women & men

A
  • women: 1 in 34
  • men–> 1 in 53
69
Q

Genes assoc. w/ colorectal CA

A
  • non-polyposis synd
  • polyposis synd
70
Q

Criteria for the eval of lynch syndrome

A
  • Age <50 at CRC or EC diagnosis?
    –> Yes - Germline MGPT eval for LS & other hereditary CA syndromes
    –> No - Consider germline MGPT eval for LS & other hereditary CA synd for all ppl w/ CRC or EC aged ≥50yo at dx
71
Q

Top 3 genes linked to Lynch Synd

A
  • MLH1
  • MSH2
  • MSH6
72
Q

Lynch Syndrome Management: Colonoscopy

A

every 1-2yrs starting @ 20-25yo

73
Q

Lynch Syndrome Management: Upper Endoscopy w/ biopsy

A

starting @ 30-40, repeat every 2-4 yrs

74
Q

MLH1 (Lynch Synd) incr risk of what other CAs?

A
  • endometrial
  • ovarian
  • brain
75
Q

What things to consider if dx of Lynch Synd?

A
  • Aspirin to lower colorectal CA risk
  • Endometrial biopsy every 1-2yrs starting @30yrs
  • Removal of ovaries & uterus
  • Annual UA @ 30-35yrs, if FHx of urothelial CA
  • Pancreatic imaging @ 50 (if high risk)
  • Annual prostate CA screening @ 40
  • Skin exam every 1-2yrs
  • Family planning for risk of constitutional mismatch repair deficiency (CMMRD
76
Q

6 genes assoc w/ Polyposis Synd

A
  1. APC – Assoc. Polyposis
  2. MUTYH – Assoc. Polyposis
  3. Colonic Adenomatous Polyposis of Unknown Etiology
  4. Peutz – Jeghers Synd
  5. Juvenile Polyposis Synd
  6. Serrated Polyposis Synd
77
Q

Testing criteria for Adenomatous Polyposis

A
  • known familial variant–>
  • > /= 20 cumulative adenomas–>
  • Multifocal/bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE)
78
Q

Consider testing for Adenomatous Polyposis if:

A
  • 10-19 adenomas
  • Desmoid tumor
  • Hepatoblastoma
  • Unilateral CHRPE
  • Certain variant of thyroid CA (cribriform-morular papillary)
79
Q

Which is worse classical FAP or attenuated FAP?

A

classical FAP

80
Q

What is the lifetime risk of CRC w/o tx in classical APC assoc. polyposis?

A

100%

81
Q

What is the lifetime risk of CRC in attenuated APC assoc. polyposis?

A
  • 70%
82
Q

What is turcot synd?

A

the addition of CNS tumors + APC assoc. polyposis

83
Q

Non Cancerous Features of FAP

A
  • Congenital hypertrophy of retinal pigment epithelium (CHRPE)
  • Osteomas – skull, jaw
  • Supernumerary teeth, odontomas
  • Desmoids – often in abdo
  • Epidermoid cysts
  • Adrenal masses
  • Gastric fundic gland polyps – hamartomatous polyps
84
Q

FAP carries a risk of what other cancers?

A
  • SI
  • thyroid
  • pancreas
  • liver
  • CNS
  • stomach
85
Q

Classical FAP Medical Management: Colonoscopy

A

every yr starting at 10-15* (for attenuated, late teens & every 1-2 yrs

86
Q

Classical FAP Medical Management: Upper endoscopy

A

starting at age 20 - 25yo

87
Q

Classical FAP Medical Management: thyroid US

A

Thyroid US every 2-5yrs starting in teens

88
Q

Classical FAP Medical Management: Edu about S/Sx of___

A
  • neurologic cancer,
  • intra-abdo desmoid tumors
89
Q

What should be considered w/ classical FAP medial management?

A
  • Small bowel visualization
  • Liver palpation, abdo US & AFP every 3-6mos 1st 5yrs of life
90
Q

What are the other Polyposis Syndromes

A
  • MUTYH-Assoc. Polyposis (MAP)
  • Juvenile Polyposis syndrome
  • Serrated/hyperplastic polyposis syndrome
91
Q

Describe MUTYH-Associated Polyposis (MAP)

A
  • Autosomal recessive inheritance
  • < 100 adenomas
  • CRC at an older age than FAP
  • Duodenal manifestations: cancer, adenomas
92
Q

Describe Juvenile Polyposis synd

A
  • polyps in colon & GI tract
  • BMPR1A & SMAD4* pathogenic variants
  • Some ppl will have freq nosebleeds, anemia, or more bleeding than typical
93
Q

Describe Serrated/hyperplastic polyposis synd

A
  • Serrated polyps in large bowel rectum
  • Most have no identifiable genetic cause
94
Q

Consider surg for which gene variants?

A
  • APC
  • AXIN2
  • GREM1
  • MSH3 (2)
  • MUTYH
  • NTHL1 (2)
  • POLD1
  • POLE
95
Q

Consider aspirin for which gene variants?

A
  • EPCAM
  • MLH1
  • MSH2
  • MSH6
  • PMS2
96
Q

Consider endoscopy of rectum for which gene variants?

A
  • APC (classic)
  • MUTYH
97
Q

Recommendations w/o testing for

A
  • Colonoscopy at age 40 (or 10yrs before earliest dx)
  • Repeated every 5yrs
98
Q

Recommendations w/o testing for

A

Colonoscopy at age 45

99
Q

Recommendations w/o testing for FDR w/ adv adenomas or adv sessile serrated polyps

A
  • Colonoscopy at 40 (or age of onset in relative)
  • Repeat every 5-10yrs
100
Q

Reasons for genetic counseling

A
  • Can help incr understanding by discussing poss. outcomes up front
  • Can help guide testing decisions
  • Can assist w/ insurance coverage
  • Can lead to changes in medical management, even w/o testing
  • Ethical Considerations
101
Q

How can genetic counseling help guide testing decisions?

A
  • Make sure right test is ordered
  • Make sure a pt qualifies for testing
  • Allows informed decision making
102
Q

What is the cost of genetic counseling in most places?

A

~$250

103
Q

List 3 Hematologic d/o

A
  1. Chronic Myelogenous Leukemia
  2. Hemoglobinopathies
  3. Hemochromatosis
104
Q

Which chromosome is assoc. w/ CML?

A

Philadelphia chromosome

105
Q

Describe the Philadelphia chromosome

A

present in the blood cells of 90% of ppl w/ CML

106
Q

Function of the BCR-ABL gene

A

tells blood cells to produce too much of a PRO called tyrosine kinase.
- Tyrosine kinase promotes CA by allowing certain blood cells to grow out of control.

107
Q

Which 2 chromosomes are assoc. w/ the Philadelphia chromosome?

A

chromosomes 9 & 22

108
Q

What are the normal hgbs produced by the body?

A
  • HgbA, HgbA2 & HgbF
109
Q

In sickle cells, which variant causes some or all beta chains to have an abnl structure.

A

HBB p.Glu6Val (E6V)

110
Q

What is the altered Hgb called associated w/ Sickle cell>

A

HgbS

111
Q

How is sickle cell diagnosed?

A
  • Hgb electrophoresis (Hgb S %) or
  • genetic testing (E6V)
112
Q

1 hgbS allele (p.Glu6Val) & a 2nd pathogenic variant in the HBB gene
causes…

A
  • RBCs to distort into a sickle
  • AR inheritance (most homozygous)
    • HbAA–> Normal
    • HbSS–> SCA
    • HBSC–> sickle HgbC dz
113
Q

Features (due to sickling of red blood cells):

A
  • Anemia
  • Repeated infxs
  • Periodic pain episodes
  • Painful swelling of the hands/feet
114
Q

Carriers–> sickle cell trait causes

A
  • Protective against malaria (common in certain populations)
  • Do not see most sickling manifestations
115
Q

Four HBA copies is causes

A

Standard/normal

116
Q

3 HBA copies is causes

A

silent carrier

117
Q

2 HBA copies is causes

A

Carrier state

118
Q

1 HBA copies is causes

A

HbH Dz

119
Q

Zero HBA copies is causes

A

Hb Barts Dz

120
Q

Alpha-thalassemia: silent carrier S/Sx

A

Typically normal lab tests & no clinical impact

121
Q

Alpha-thalassemia: alpha thalassemia trait

A

Mild anemia on lab work

122
Q

Alpha-thalassemia: HbH Dz S/Sx

A
  • Anemia
  • enlargement of liver & spleen
  • jaundice
  • specific bone changes (overgrowth of upper jaw & prominent forehead)
123
Q

Alpha-thalassemia: Hb Bart hydrops fetalis synd/ alpha thalassemia major S/Sx

A
  • Hydrops fetalis , severe anemia, enlarged liver/ spleen, heart defects, & GU abnl.
  • Can cause ppl to pass away prenatally or soon after birth
124
Q

What does Beta Thalassemia cause

A

Reduces amount of hgb by impacting production of beta chains

125
Q

Beta thalassemia inheritance pattern?

A

Autosomal recessive, pathogenic variants in HBB

126
Q

Describe Beta thalassemia minor/trait

A

One working beta chain & one non-working chain

127
Q

S/Sx of beta thalassemia minor/trait?

A
  • no major Sxs (those AFAB may have more significant anemia when pregnant)
  • Lab results look like iron-deficiency anemia
128
Q

Describe Beta thalassemia major

A

two non-working beta chains

129
Q

S/Sx of beta thalassemia major

A
  • Severe anemia in childhood
    Can cause
  • growth delay
  • jaundice,
  • enlarged liver & spleen
  • bone changes
  • recurrent infxs
130
Q

How many types of hemochromatosis are there?

A

5

131
Q

What is type 1 hemochromatosis?

A

the leading cause of iron overload dz

132
Q

How is hemochromatosis commonly seen in?

A

northern Europeans

133
Q

Type 2 Hemochromatosis (inheritance method & gene)

A
  • juvenile hemochromatosis
  • autosomal recessive
  • (HAMP/HJV)
134
Q

Type 3 Hemochromatosis (inheritance method & gene)

A

Autosomal recessive, (TFR2)

135
Q

Type 4 Hemochromatosis (inheritance method & gene)

A

Autosomal dominant, (SLC40A1)

136
Q

Type 5 Hemochromatosis (inheritance method & gene)

A

Autosomal dominant, (FTH1)

137
Q

Hemochromatosis HFE gene controls…

A

hepcidin signaling

138
Q

What is hepcidin?

A

a hormone that inhibits iron export from enterocytes & macrophages when iron levels are good.

139
Q

Hemochromatosis Diagnostics

A
  • clinical dx based on elev. serum ferritin/transferrin
  • elev. labs + Sx + PE or FHx–> analysis should be performed
140
Q

S/Sx of hemochromatosis

A
  • abdo pain
  • arthropathy
  • cardiomyopathy
  • cirrhosis
  • DM
  • fatigue
  • hepatomas
  • hepatomegaly
  • hyperpigmentation
  • hypogonadism
  • impotence
  • weight loss,
141
Q

Hemochromatosis: how often do you monitor serum ferritin levels?

A

annually

142
Q

Management for hemochromatosis

A

Phlebotomy (remove 1 unit)

143
Q

What should be avoided if you have hemochromatosis?

A
  • medicinal iron
  • mineral supplements
  • excess vit C
  • alcohol
  • uncooked seafood
143
Q

How often do you get maintenance phelbotomy w/ hemochromatosis?

A
  • every 3-4mos for men
  • every 6-12mos for women
144
Q

Management of hemochromatosis for ppl w/ cirrhosis

A

standard screening for liver CA

145
Q

What is hemophilia?

A

a bleeding d/o where blood does not clot properly

146
Q

Severity of hemophilia depends on…?

A

amount of factor in the blood

147
Q

___ the factor, the ___ the bleeding risk.

A
  • lower
  • higher
148
Q

What are the 2 types of hemophilia?

A

A & B

149
Q

Hemophilia A is a deficiency in?

A

Factor 8 (F8 gene)

150
Q

Hemophilia B is a deficiency in?

A

Factor 9 (F9 gene)

151
Q

How is hemophilia passed?

A

X-linked inheritance

152
Q

Which hemophilia is more severe?

A

Hemophilia B

153
Q

Tx for hemophilia

A

infusion of prepared factor concentrates

154
Q

What is the role of G6PD?

A

prevent cellular damage from reactive O2 species (ROS)

155
Q

GGPD def, a defect in

A

enzyme causes RBCs to break down preamaturely

156
Q

What does G6PD def show on labs?

A

hemolytic anemia

157
Q

How many people are impacted by G6PD def?

A

400 million worldwide

158
Q

Examples of incr ROS.

A
  • stress
  • certain foods (fava beans)
  • certain meds (sulfa, antimalarial meds, high dose aspirin, NSAIDs, some Abx, quinidine)
159
Q

How is G6PD gene passed?

A

x-linked dominant

Block 4 - Emergency Medicine (4 decks)

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