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Genetic Counseling Boards Prep 2023 > Cancer + cancer conditions > Flashcards

Cancer + cancer conditions Flashcards

1
Q

What types of cells are affected by carcinomas?

A

epithelial cells

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2
Q

What type of cells are affected by adenocarcinomas?

A

gland epithelial cells

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3
Q

What types of tissues are affected by sarcomas?

A

blood, muscle, bone (mesoderm origin)

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4
Q

What are the stages of the cell cycle?

A

G1- growth, no DNA synthesis
G0- cell division arrested (blood cells, neurons)
S- DNA replication
G2- cell growth
M- mitosis

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5
Q

Are mutations in oncogenes and tumor suppressor genes GOF or LOF?

A

oncogenes: GOF
TS: LOF

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6
Q

What are the AJ BRCA founder mutations?

A

BRCA1 187delAG
BRCA1 5385insC
BRCA2 6174delT

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7
Q

What moderate risk hereditary breast cancer gene also includes an increased risk for male breast cancer?

A

PALB2

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8
Q

What is the general population risk for CRC by age 80?

A

4%
FDR- 9%
>1 FDR- 16%

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9
Q

What are the polyp type criteria for NCCN?

A

> = 10 adenomatous
= 2 hamartomatous
= 5 serrated proximal to rectum

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10
Q

What section of the colon is more likely to be affected by Lynch syndrome related CRC?

A

transverse and ascending

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11
Q

What other gene does MLH1 form a complex with?

A

PMS2

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12
Q

What other gene does PMS2 form a complex with?

A

MLH1

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13
Q

What other gene does MSH6 form a complex with?

A

MSH2

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14
Q

What other gene does MSH2 form a complex with?

A

MSH6

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15
Q

What gene in the MMR pathway has the lowest cancer risks?

A

PMS2

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16
Q

How does EPCAM lead to increased cancer risk?

A

deletion in 3’ area –> hypermethylation and silencing of MSH2

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17
Q

What are symptoms of hemangioblastomas in VHL?

A

causes pressure–> headaches, visual changes, pain, vomiting
80% brain 20% spinal cord

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18
Q

What is the classic triad associated with MEN1 cancer syndrome?

A

parathyroid, pancreas, pituitary
-two of three involved for dx

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19
Q

What are skin findings associated with MEN1 cancer syndrome?

A

angiofibromas, collagenomas, lipomas, CALs, confetti like lesions

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20
Q

What can pituitary dysfunction cause in MEN1 cancer syndrome?

A

prolactinomas–> sexual dysfunction

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21
Q

What percent of MEN2 is MEN2A or MEN2B?

A

70-80% MEN2A
20-30% MEN2B

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22
Q

What is the risk for MTC in MEN2A\, MEN2B, FMTC?

A

95% in MEN2A in early adulthood
100% in FMTC in middle age
100% in MEN2B in early childhood

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23
Q

What is the genetic cause of 95% of cases of MEN2B?

A

RET Met918Thr

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24
Q

What is the Brazilian founder variant in TP53?

A

c.101G>A
p. Arg337 His

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25
Q

How is breast cancer characterized in LFS?

A

often ER and PR positive, and HER2 positive

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26
Q

When should TP53 variants identified on germline genetic testing be thought to be somatic variants?

A

if low allele fraction <40%

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27
Q

What is the lifetime risk of breast cancer with atypical ductal or lobular hyperplasia?

A

20-25% lifetime risk no fhx
up to 40% with fhx

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28
Q

What is the risk DCIS becomes invasive ?

A

up to 30%
higher chance with comedo

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29
Q

What type of ovarian cancer is BRCA usually associated with?

A

high grade serous

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30
Q

How do PARP inhibitors function?

A

BRCA cells still have functioning BER repair
PARP blocks BER repair –> cancer cells die

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31
Q

When is an oophorectomy recommended for individuals with pathogenic mutations in BRCA1 and BRCA2?

A

BRCA1: 35-40
BRCA2: 40-45

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32
Q

What type of colon polyp has the most malignant potential?

A

adenomatous

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33
Q

What type of APC variant is more likely to be pathogenic?

A

protein truncating variants

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34
Q

Where are APC variants that are most likely to cause attenuated FAP located?

A

5’ or 3’ end

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35
Q

What is the AJ APC founder mutation?

A

Ile1370Lys

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36
Q

What is the typical age of presentation of MUTYH related polyposis?

A

50s

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37
Q

What MMR genes have the greatest overall cancer risk?

A

MLH1 and MSH2

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38
Q

What AR condition can EPCAM cause?

A

congenital tufting enteropathy

intractable diarrhea of infancy, severe malabsorption due to intestinal epithelial dysplasia

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39
Q

How is Muir Torre syndrome characterized?

A

Lynch syndrome + sebaceous carcinomas and keratocanthomas

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40
Q

How is Turcot syndrome characterized?

A

multiple colorectal adenomas + primary brain tumors

APC + medulloblastoma
MMR + glioblastoma

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41
Q

When do the characteristic pigmented lesions of PJS appear?

A

after birth

42
Q

How is Peutz Jeghers syndrome dx?

A

two or more of:
-PJS polyps
-fhx
-characteristic hyperpigmentation

43
Q

What is the typical polyp type in juvenile polyposis syndrome?

A

hamartomatous or mixed

44
Q

What other condition can be seen along with juvenile polyposis syndrome?

A

SMAD4 also causes HHT

45
Q

How is type 1 VHL characterized?

A

HIGH hemangioblastoma
HIGH RCC
LOW Pheo

mutation types: deletions, nonsense, splice

46
Q

How is type 2a VHL characterized?

A

HIGH hemangioblastoma
LOW RCC
HIGH Pheo

mutation types: missense, Tyr98His, Tyr112His

47
Q

How is type 2b VHL characterized?

A

HIGH hemangioblastoma
HIGH RCC
HIGH Pheo

mutation types: partial deletions, nonsense, misssense

48
Q

How is type 2c VHL characterized?

A

NO hemangioblastoma
NO RCC
HIGH Pheo

mutation types: missense, Ser80Leu, Val841, Leu188Val

49
Q

What sub types of VHL do not have high risk for RCC?

A

type 2a: low
type 2c: none

50
Q

What exons of the RET gene are associated with MEN2A, FMTC, and MEN2B?

A

exons 10-11: 2A
exon 13: 2A, FMTC
exons 14-16: 2B, FMTC
exon 16: 2B Met918 Thr

51
Q

What is the penetrance of Birt Hogg Dube syndrome?

A

85%

52
Q

What is the risk of RCC in BHD?

A

15-45%

53
Q

What type of RCC is seen in hereditary leiomyomatosis renal cell carcinoma syndrome?

A

papillary type 2: fried egg appearance
also with uterine fibroids

54
Q

What is the most common CHEK2 mutation?

A

1100del

55
Q

What CHEK2 mutation is considered to be low penetrance?

A

I157T

56
Q

What is the most aggressive type of renal cancer and what condition is this seen in ?

A

papillary type 2
HLRCC

57
Q

What cancer syndrome is characterized by papillary type 1 RCC?

A

hereditary papillary RCC (MET)

58
Q

What percent of RB is unilateral or bilaterla?

A

60% unilateral mean dx 24 months
40% bilateral mean dx 15 months

59
Q

What is avoided in treatment of RB?

A

radiation avoided to minimize later cancer risks

60
Q

What types of RB variants are considered to be lower penetrance?

A

inframe, missense, splice site, certain indels of exon 1 or promoter region

61
Q

What is a common characterization of MAP associated CRC tumors?

A

KRAS somatic variant in 60-90%

10-25% of CRC with KRAS variant have MAP

62
Q

What is the lifetime risk of CRC without surveillance for MAP?

A

80-90%

63
Q

Where are hamartomatous polyps usually found in PJS?

A

mostly small intestine

64
Q

What type of ovarian tumors are found in PJS?

A

mostly sex cord

65
Q

What type of STK11 mutation is associated with a more severe phenotype?

A

premature stop codons

66
Q

What gynecologic finding is found in individuals with HLRCC?

A

uterine fibroids, an cause irregular and heavy menses

67
Q

How is RCC in HLRCC characterized?

A

papillary type 2
typically unilatera, solitary, aggressive with poor survival

onset often ~30

68
Q

What can biallelic mutations in the gene that causes HLRCC cause?

A

FH gene
fumarate hydratase deficiency

69
Q

What are skeletal findings associated with Nevoid BCC syndrome?

A

bifid ribs, vertebrael anomalies, pre or post axial polydactyly

70
Q

What are additional cancer risks associated with Nevoid basal cell carcinoma syndrome?

A

cardiac fibroma- 2%
ovarian - 20%
medulloblastoma- 5% (higher with SUFU mutation)

71
Q

Are lung or renal findings more prevalent in BHD?

A

pulmonary cysts in 70-80%

pneumothorax 25%
RCC in 19-35%

72
Q

What tumor type is most common in MEN1?

A

parathyroid tumors- in 90% by age 20-25
hypercalcemia by age 50

73
Q

What can cause sexual or menstrual dysfunction in MEN1 cancer syndrome?

A

pituitary tumors -> prolactinomia

74
Q

How is MEN1 syndrome dx clinically?

A

-2 of main tumor types (parathryoid, pituiary, GEP)
OR
-1 main tumor type + 1 FDR

75
Q

What is typically the first symptom in MEN1?

A

primary hyperparathyroidism

76
Q

How is FMTC dx clinically?

A

4 or more cases in family without other MEN related cancers

77
Q

How is medullary thyroid cancer characterized in FMTC?

A

presents at younger age and is more often associated with C cell hyperplasia

78
Q

What are the highest cancer risks in PTEN syndrome?

A

85% breast
75% thyroid - benign or cancerous
28% endometrial

90% polyps- variable histology
35% RCC

79
Q

How does H. pylori affect CDH1?

A

can induce promotor hypermethylation at CDH1

80
Q

What causes hearing loss in VHL?

A

endolymphatic sac tumors

81
Q

How is VHL dx clinically?

A

two or more characteristic lesions
OR one characteristic lesion + fhx

(endolymphatic sac tumor and pancreatic neuroendocrine tumor not used for dx)

82
Q

What group affected by VHL is more likely to have CNS hemangioblastomas?

A

males with partial deletions

83
Q

When do most adrenocortical carcinomas occur in LFS?

A

before the age of 5

84
Q

How is LFS dx clinically?

A

all three of the following or a pathogenic variant in TP53:
-proband with sarcoma <45
-FDR with any cancer <45
either
–FDR or SDR with any cancer <45
–anyone with sarcoma at any age

85
Q

What percent of individuals with hypo diploid acute lymphoblastic leukemia before 21 are affected by what cancer predisposition disorder?

A

50% with LFS

86
Q

What is the Brazilian TP53 founder mutation?

A

p. Arg 337 His

87
Q

What type of breast cancer is associated with LFS?

A

ductal, ER and PR + , HER2 amplification (triple positive)

88
Q

What type of CNS tumor are most common in LFS?

A

glioblastoma and astrocytomas

89
Q

What percent of individuals with XP have neurologic findings and what are they?

A

25%
microcephaly, diminished reflexes, progressive SNHL, progressive cognitive, ataxia

90
Q

What pathway is affected in XP?

A

NER pathway

UV exposure –> cyclobutane dimers which cannot be repaired

91
Q

Which cancers have a greater risk in BRCA1 vs BRCA2 associated HBOC?

A

BRCA1> BRCA2
breast 55-72% vs 45-69%
ovarian 39-44% vs 11-17%

BRCA1<BRCA2
male breast 1-2% vs 6-8%
prostate 21% vs 27% by 75
29% vs 60% by 85
pancreatic 1-3% vs 3-5%
elevated melanoma risk with BRCA2

92
Q

How does the pathology of BRCA1 and BRCA2 tumors differ?

A

breast
BRCA1: higher grade, often triple negative
BRCA2: ER and PR +, 16% triple negative

BRCA2 prostate tumors are more aggressive

93
Q

What is a reduced penetrance allele for BRCA1?

A

p.Arg1699Gln
intermediate risk

94
Q

What LS gene carries the greatest CRC risk?

A

EPCAM 75%
then MLH1 (44-53%) and MSH2 (42-46%)

95
Q

What MMR genes carry the greatest uterine cancer risk?

A

MSH2 (46%) MSH6 ( 41%)

96
Q

What MMR gene carries the greatest ovarian cancer risk?

A

MSH2 (17%)

97
Q

What MMR genes carry the greatest stomach and small bowel cancer risk?

A

MLH1 and MSH2

98
Q

What MMR gene carries the greatest risk for bladder, prostate, and breast cancer?

A

MSH2

99
Q

What percent of CRC has somatic BRAF mutations vs LS related CRC?

A

BRAF in 15% of CRC overall
only in 1.6% LS CRC

100
Q

What is the role of the MMR pathway?

A

identifies and removes SNP mismatches or insertion or deletion loops

101
Q

How is fertility affected in Bloom syndrome?

A

women- fertile with early menopause
men-infertile

102
Q

What are cytogenetic findings of Bloom syndrome?

A

increased sister chromatid exchanges
increased quad radial configurations in cultured blood lymphocytes
chromatid gaps, breaks, and rearrangements

Genetic Counseling Boards Prep 2023 (13 decks)

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