Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetic Counseling > Cancer Genetics > Flashcards

Cancer Genetics Flashcards

1
Q

What cancers are associated with VHL?

A

Hemangioblastomas (most common one associated with VHL!) These can present as retinal agiomas, cerebellar hemangioblastomas, and spinal hemangiomas.
Endolymphatic sac tumors
Epidydimal cysts
Pancreatic cysts and PNETs
Pheos (secrete only norepinephrine in VHL)
Clear cell renal cancer and renal cysts

Think Hippo with HERP (hemangio,endolymphatic,renal cell cancer,pheos)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What gene should you test for in any patient presenting with medullary thyroid cancer or C-cell hyperplasia?

A

RET (for MEN2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the features associated with MEN2?

A

Medullary thyroid cancer (~100%)
Pheos (metanephrine predominant) (50%)
Hyperparathyroidism (10-20%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the Carney Triad?

A

Gastric leiomyosarcoma
Pulmonary chondroma
Adrenal adenoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the Carney Complex?

A

Skin pigmentation changes (nearly 100%)
Lentigines on lips, eyes, or genitalia, at least one blue nevus
Primary pigmented nodular adrenocortical disease
Pituitary adenomas
Cardiac myxomas
Breast adenomas
Thyroid nodules or cancer
Psammomatous melanotic schwannoma
Large cell calcifying Sertoli cell tumor (LCCST)
PRKAR1A gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Birt Hogg Dube type of renal cell carcinoma

A

Chromophobe (most common), clear cell carcinomas, or mixed oncocytic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

If you have multiple types of these skin findings it is pathoneumonic for Birt Hogg Dube

A

Fibrofolliculomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

HLRCC type of renal cell cancer

A

Papillary type II

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

If you see a child with hypopigmented macules and multiple kidney cysts, which contiguous gene deletion should you think of?

A

TSC2 and PKD1 (TSC and ADPKD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What gene should you reflex to in a child with skin findings of NF1 but normal NF1 testing?

A

SPRED1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Major diagnostic criteria for Gorlin syndrome

A

Calcification of the falx (can see on skull Xray), jaw keratocyst (can see on Panorex), Palmar/plantar pits (can see best after soaking in water), multiple BCCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Individuals receiving a clinical dx of NF2 must have what features

A

vestibular schwannomas AKA acoustic neuromas (typically bilateral, but can be unilateral)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Name some recessive/biallelic hereditary cancer syndromes

A 
Ataxia telangiectasia
Fanconi Anemia
MYH-associated polyposis (MAP)
Constitutional mismatch repair deficiency (CMMRD)
Xeroderma Pigmentosum
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Name some conditions you where you need to screen for Wilms tumor

A 
Familial WT (FWT1 and FWT2 genes)
Beckwith-Weidemann 
Isolated hemi-hypertrophy
WAGR
Denys Drash
Li-Fraumeni
Other overgrowth syndromes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are some syndromes you can see non-medullary thyroid cancer in?

A

Carney complex 1
Cowden
FAP
Multinodular goiter

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Epidermoid cysts are associated with which syndrome?

A

FAP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Angiofibromas are associated with which syndrome?

A

MEN1

18
Q

Cutaneous leiomyomas are associated with which syndrome?

A

HLRCC

19
Q

What is the purpose of the Bethesda criteria?

A

To identify a colorectal tumor that should be evaluated for MSI

20
Q

If a breast lesion stains negative for e-cadherin, what type of breast lesion is it and which syndrome should you consider?

A

lobular lesion; HDGC

21
Q

Attenutated FAP is associated with mutations in which parts of the FAP gene?

A

3’ and 5’ ends

22
Q

Name some features you would expect to see in an MSI-H tumor

A

poorly differentiated, mucinous, signet ring cells, tumor infiltrating lymphocytes, medullary growth pattern, right-sided

23
Q

You are seeing a woman in cancer clinic with a known familial mutation and her sister wants KFM testing. They mention Ashkenazi Jewish ancestry. What testing do you offer?

A

Multi-site 3 BRCA testing

24
Q

Which two childhood tumors are most predictive of a TP53 mutation?

A

Adrenocortical carcinomas and choroid plexus tumors

25
Q

Name 3 syndromes associated with hamartomatous polyps

A

Peutz-Jeghers
Cowden
Juvenile polyposis

26
Q

Which MMR gene has a slightly higher risk for endometrial cancer than the rest?

A

MSH6

27
Q

Which MMR gene is more common in Muir Torre syndrome? (Sebaceous adenomas)

A

MSH2

28
Q

Which group of women does ovarian cancer screening have a high false positive rate in?

A

Premenopausal

29
Q

What is the carrier rate of a BRCA1/2 mutation in Ashkenazi Jews?

A

1/40

30
Q

Oral contraceptives are protective against which kinds of cancer?

A

Endometrial, ovarian

31
Q

Which hereditary cancer syndrome does PARP inhibitors aid in treatment for?

A

HBOC; PARP inhibitors sensitizes tumor cells (especially those caused by BRCA1/2) to cytotoxic therapy and radiation therapy

32
Q

What is the de novo rate in NF1?

A

50%

33
Q

What is the de novo rate in NF2?

A

50%

34
Q

At what age do children with NF1 have the majority of symptoms to meet clinical criteria?

A

8 years

35
Q

What is the most prevalent feature in children with NF2?

A

Bilateral acoustic neuromas AKA bilateral vestibular schwannomas

36
Q

What does renal involvement in patients with TSC consist of?

A

Kidney cysts, angiomyolipoma (most common, ~80%), clear cell carcinoma

37
Q

Hereditary Papillary type I renal cell carcinoma is associated with which gene?

A

c-MET

38
Q

What type of polyps are seen in Peutz-Jeghers syndrome and where are they most frequently located?

A

hamartomatous; small bowel (intussusception)

39
Q

MEN1

A

Parathyroid, pituitary, pancreatic
Test calcium levels
Pituitary notes: prolactinoma, sexual dysfunction in males, amenorrhea in females
No surgery

40
Q

MEN2A

A

RET gene
MTC, parathyroid, pheos
Remove thyroid by age 5 (check for pheos first)

41
Q

MEN2B

A

RET gene
marfanoid habitus, MTC, pheos, mucosal neuromas
remove thyroid in infancy (check for pheos first)

Genetic Counseling (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions