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Board Prep > Cancer > Flashcards

Cancer Flashcards

1
Q

What percentage of FAP is de novo

A

30%

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2
Q

Which part of the APC gene is associated with milder phenotype/ later onset?

A

3’ and 5’ end of gene

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3
Q

Which region of APC is associated with severe polyposis?

A

Exon 15

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4
Q

Which mutation in APC is found in the AJ pop and has a higher risk of colon cancer?

A

I1307K

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5
Q

What percentage of CRC tumors that are not Lynch will stain neg for one of the MMR proteins?

A

20%

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6
Q

What percentage of Lynch tumors will strain neg for an MMR protein?

A

83%

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7
Q

What mutation in RET is responsible for 98% of MEN2B?

A

p.Met918Thr

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8
Q

What is the phenotype of MEN2B?

A

100% MTC
50% pheo
GI ganglioneuroma
Marfanoid appearance
Skeletal abnormalities
Neuromas of the eyelids and mucosa

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9
Q

Fibrofolliculomas are pathognomonic for what disorder?

A

Birt Hogg Dube

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10
Q

What are leiomyomas pathognomonic for?

A

Hereditary leiomyomatosis and renal cell carcinomas

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11
Q

You have a patient with a pheocromocytoma. What is your differential diagnosis?

A

MEN2
VHL
Hereditary pheo - paraganglioma syndrome

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12
Q

Which type of colon polyp is associated with Peutz Jeghers syndrome?

A

hamartomatous polyp

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13
Q

Which of the following is NOT a possible explanation for loss of MLH1/PMS2 protein on immunohistochemistry
(IHC) staining?

a. Sporadic BRAF mutation V600E
b. Germline mutation in MLH1
c. Sporadic MLH1 promoter hypermethylation
d. Germline mutation in MSH6

A

d. Germline mutation in MSH6

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14
Q

A patient has a personal history of colon cancer and a sebaceous carcinoma and is found to have a hereditary cancer syndrome. What is the most likely diagnosis?

A

Muir-Torre syndrome, a part of Lynch syndrome

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15
Q

What breast cancer pathology is associated with mutations in the CDH1 gene?

A

Lobular breast cancer

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16
Q

What risk model does NOT help to identify the prior probability for an individual to have a gene
mutation?

A

Claus model

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17
Q

What risk models help to identify the prior probability for an individual to have a gene
mutation?

A

Penn II model
BRCAPro
Tyrer-Cuzick

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18
Q

BRCA1 and BRCA2 account for what percentage of hereditary breast cancer?

A

50%

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19
Q

BRCA1 and BRCA2 account for what percentage of hereditary breast and ovarian cancer?

A

90%

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20
Q

Waht is the most commonly reported mutation in CHEK2?

A

1100delC

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21
Q

Which mutations in CHEK2 has been shown to have lower penetrance of cancer risk?

A

I157T

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22
Q

Which of the following cancers is not a major criteria for Cowden syndrome?

a. Breast cancer
b. Colon cancer
c. Thyroid cancer
d. Endometrial cancer

A

b. Colon cancer

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23
Q

What do we know regarding PARP and DNA repair?

A

Cells with BRCA1 or BRCA2 mutations are deficient in homologous recombination DNA repair, but still
have base-excision repair

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24
Q

BRCA2 has higher risk for all types of cancer versus BRCA1 except which cancer types?

A

Breast >60% each
BRCA1 ovarian is 39-58% vs. BRCA2 13-29%

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25
Q

What are preventative surgery options for BRCA1 or BRCA2 mutation carriers?

A

Risk reducing mastectomy reduces risk for breast cancer by over 90%

Risk reducing oophorectomy has been shown to reduce breast cancer risk in pre-menopausal women

Risk reducing oophorectomy reduces ovarian cancer risk by 80-90%

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26
Q

What is the most frequent cancer in women with Li-Fraumeni syndrome?

A

Breast cancer

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27
Q

What is the rate of de novo mutations in Li-Fraumeni syndrome?

A

7-20%

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28
Q

Which of the following cancers is least associated with Cowden syndrome?

a. Breast cancer
b. Follicular thyroid cancer
c. Papillary thyroid cancer
d. Endometrial cancer

A

c. Papillary thyroid cancer

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29
Q

Which of the following is NOT a protective factor for ovarian cancer?

a. oral contraceptives
b. post-menopausal hormone replacement therapy
c. breast feeding
d. hysterectomy

A

b. post-menopausal hormone replacement therapy

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30
Q

In prenatal clinic, a patient tells you that she has had two basal cell carcinomas. Which of the
following additional pieces of information would be enough to refer the patient to be evaluated in the cancer genetics clinic for nevoid basal cell carcinoma syndrome? [select all that apply]
a. the patient was diagnosed with her first BCC at age 29
b. the patient was diagnosed with her first BCC at age 39
c. the patient’s father has been diagnosed with 2 BCCs
d. the patient’s father has been diagnosed with 7 BCCs

A

a. the patient was diagnosed with her first BCC at age 29

AND

d. the patient’s father has been diagnosed with 7 BCCs

pt or first degree relative with BCC dx <30, or >5 BCCs in one person

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31
Q

In prenatal clinic, a patient tells you that she has had colon polyps. Which of the following additional pieces of information would be enough to refer the patient to be evaluated in the cancer genetics
clinic? [select all that apply]

a. she had 5 adenomatous colon polyps.
b. she and her brother have each had 5 adenomatous colon polyps.
c. she had 3 juvenile polyps
d. she had 1 Peutz-Jeghers type polyp.

A

c. she had 3 juvenile polyps

adenomatous polyps: must be at least 10; at least 3-5 for juvenile; at least two for PJs

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32
Q

In prenatal clinic, a patient tells you that her mother was diagnosed with endometrial cancer. Which of the following additional pieces of information would be enough to suggest that the patient’s mother
be evaluated in the cancer genetics clinic? [select all that apply]

a. the mother was diagnosed at age 55
b. the mother was diagnosed at age 55 AND her brother had colon cancer
c. the mother was diagnosed at age 55 AND her brother had melanoma
d. the mother was diagnosed at age 55 AND her brother had pancreatic cancer

A

b. the mother was diagnosed at age 55 AND her brother had colon cancer

d. the mother was diagnosed at age 55 AND her brother had pancreatic cancer

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33
Q

Which of the following in one individual is enough to warrant assessment for cancer predisposition?
[select all that apply]

a. desmoid tumor
b. endolymphatic sac tumor
c. gastrinoma
d. retinal hemangioblastoma

A

All of them…

a. desmoid tumor
b. endolymphatic sac tumor
c. gastrinoma
d. retinal hemangioblastoma

34
Q

A woman is diagnosed with breast cancer at age 50. She has macrocephaly (98 th percentile). She meets criteria for consideration of Cowden syndrome ___

a. with no additional personal/family history
b. if her brother has autism
c. if her mother had endometrial cancer
d. if she has multiple mucocutaneous lesions

A

d. if she has multiple mucocutaneous lesions

35
Q

You are working as a lab GC. You are reviewing a test order for sequencing of the FH gene. What would be an appropriate indication for that testing?

a. personal history of dyslipidemia; family history of early-onset heart attacks
b. clear cell renal carcinoma
c. chromophobe clear cell renal carcinoma
d. papillary type 2 renal carcinoma

A

d. papillary type 2 renal carcinoma

36
Q

Which of the following family histories warrants assessment for FAMMM?

a. man with two melanomas
b. man with melanoma; brother with melanoma; father with prostate cancer
c. man with melanoma; brother with melanoma; father with pancreatic cancer
d. man with melanoma; brother with melanoma; father with renal carcinoma

A

c. man with melanoma; brother with melanoma; father with pancreatic cancer

37
Q

A patient presents with papillary type 1 renal cell carcinoma. What genetic testing should be considered?

a. MEN1 gene
b. MEN2 gene
c. MET gene
d. VHL gene

A

c. MET gene

38
Q

Referral is warranted for assessment for cancer predisposition for which patients? [as many as apply]

a. woman diagnosed with a pheochromocytoma and CNS hemangioblastoma
b. woman diagnosed with a pheochromocytoma and clear cell RCC
c. woman diagnosed with a pheochromocytoma; father with prostate cancer
d. woman diagnosed with a pheochromocytoma; mother with pheochromocytoma

A

All of them…

a. woman diagnosed with a pheochromocytoma and CNS hemangioblastoma
b. woman diagnosed with a pheochromocytoma and clear cell RCC
c. woman diagnosed with a pheochromocytoma; father with prostate cancer
d. woman diagnosed with a pheochromocytoma; mother with pheochromocytoma

Suspect VHL or hereditary paraganglioma-pheochromocytoma syndrome

39
Q

Assessment for LFS is warranted by a breast cancer diagnosis before what age?
a. 20
b. 25
c. 30
d. 35

A

c. 30

40
Q

Increased cancer risk is NOT associated with which of these chromosomal anomalies?

a. 1p36 deletion syndrome
b. Down syndrome
c. Klinefelter syndrome
d. Turner syndrome

A

a. 1p36 deletion syndrome

T21: ALL, AML.
Klinefelter: breast, extragonadal germ cell tumors.
Turner: WT, leukemia, gonadal, and neurogenic tumors.

41
Q

Benign or malignant?

a. lipoma
b. hemangioma
c. pheochromocytoma
d. colon adenoma

A

all benign. Colon adenoma is benign but also can be precancerous.

42
Q

A 60-year-old woman is concerned about her family history of breast cancer. Which of the following would further increase her risk of breast cancer? [select as many as apply]

a. dense breast tissue
b. fibroadenoma
c. papilloma
d. first child at 32

A

a. dense breast tissue

d. first child at 32

43
Q

A woman is diagnosed with breast cancer at age 27. There is no other family history of cancer. What is the chance of a TP53 mutation?

a. less than 5%
b. 5-10%
c. 11-20%
d. more than 20%

A

a. less than 5%

44
Q

In Peutz-Jeghers syndrome, GI hamartomas are usually ____ and often _____. Colorectal cancer risk is ____.

a. found in the small intestine; cause complications such as bleeding; increased mainly due to the hamartomas
b. found in the small intestine; cause complications such as bleeding; increased mainly due to adenomatous polyps
c. found in the small intestine; cause complications such as bleeding; only slightly increased
d. found in the colon and rectum; do not cause complications such as bleeding; only slightly increased

A

b. found in the small intestine; cause complications such as bleeding; increased mainly due to adenomatous polyps

45
Q

In Cowden syndrome, GI hamartomas are usually ____ and often _____. Colorectal cancer risk is ____.

a. found in the small intestine; cause complications such as bleeding; increased mainly due to the hamartomas
b. found in the small intestine; cause complications such as bleeding; increased mainly due to adenomatous polyps
c. found in the small intestine; cause complications such as bleeding; only slightly increased
d. found in the colon and rectum; do not cause complications such as bleeding; only slightly increased

A

d. found in the colon and rectum; do not cause complications such as bleeding; only slightly increased

46
Q

Which of the following are risk factors for colon cancer? [select as many as apply]
a. Ashkenazi Jewish ancestry
b. insulin-dependent diabetes
c. ulcerative colitis
d. hypertension

A

a. Ashkenazi Jewish ancestry
b. insulin-dependent diabetes
c. ulcerative colitis

47
Q

For each of the following genes, would genetic testing of an asymptomatic individual be considered predictive? Or, presymptomatic?
a. APC
b. RB1 null allele
c. MSH2
d. RET

A

presymptomatic: APC, RB1 null allele, and RET

predictive: MSH2

48
Q

For which of the following condition(s) would you expect to see an AR pattern of inheritance?

a. Werner syndrome
b. Xeroderma pigmentosa
c. Dyskeratosis congenita
d. Familial Wilms tumor

A

a. Werner syndrome (RECQL2)
b. Xeroderma pigmentosa (ERCC4, ERCC6)
c. Dyskeratosis congenita (many)

49
Q

Learning of inherited cancer risk can lead patients to use denial as a coping mechanism. Match the types of denial: disbelief, dismissal, distraction, deferral

a. challenges the credibility of the info
b. shifts the topic of conversation
c. hears the info but does not accept it
d. accepts the info but does not seem to absorb all its implications

A

disbelief: hears the info but does not accept it

dismissal: challenges the credibility of the info

distraction: shifts the topic of conversation

deferral: accepts the info but does not seem to absorb all its implications

50
Q

Which risk model includes the woman’s personal risk information, her first degree
relatives breast cancer history to estimate her risk of invasive breast cancer?

a. Gail
b. BRCAPRO
c. Claus
d. IBIS

A

a. Gail

Gail Model: used for tamoxifen effectiveness, takes into account: age, first degree relatives, number and outcome of biopsies - atypical hyperplasia, age of menarche, age of first liveborn. Limitations: no personal history of cancer, does not account for AJ, does not account for paternal aunts having cancer or ovarian cancer, lacks 2nd degree, and does not account for high numbers of cancer or age of onset

51
Q

Which risk model calculates risk of breast cancer in an unaffected woman that
incorporates age of onset of cancer in first and second degree relatives on both the
maternal and paternal sides?

a. Gail
b. BRCAPRO
c. Claus
d. IBIS

A

c. Claus

Claus Model: better at incorporating family histories than the Gail Model. However it still does not include male breast cancers, and not personal risk factors

52
Q

Which prior probability risk model calculates the risk of a woman having a BRCA mutation?

a. Gail
b. BRCAPRO
c. Claus
d. IBIS

A

b. BRCAPRO

BRCAPRO: prior probability- calculates risk of breast cancer by penetrance of the gene. Includes male breast cancers, three generations of breast cancer, ovarian cancer, ages of relatives, AJ

53
Q

This cancer syndrome has mucosal trichilemmomas and acral keratosis in addition to hamartoma polyps and follicular thyroid cancer. Which condition is it?

a. PJS
b. JPS
c. Cowden
d. Birt-Hogg-Dube

A

c. Cowden

54
Q

What is the second most common cancer seen in Juvenile Polyposis Syndrome?

a. Colon
b. Stomach
c. Skin
d. Pancreatic

A

b. Stomach

Stomach cancer-21%
colon cancer risk is 40-50% risk

55
Q

Which cancer syndrome that has an increased risk of colon cancer can also be seen with a family history of cervical cancer?

A

Peutz Jeger

56
Q

What is the second most common cancer seen in Lynch Syndrome?

a. Stomach
b. Ovarian
c. Small Bowel
d. Endometrial

A

d. Endometrial

Endometrial-
25-60% in MLH1 and MSH2
15-20% in PMS2 and MSH6

57
Q

The general population risk for ovarian cancer is___

a. 0.5%
b. 1.5%
c. 3%
d. 6%

A

b. 1.5%

58
Q

If all four major proteins in Lynch syndrome are present on IHC testing and MSI is low, what additional testing for Lynch syndrome do you perform?

a. BRAF methylation studies
b. Germline genetic testing
c. Consider EPCAM deletion
d. All of the above
e. None of the above

A

e. None of the above

59
Q

IHC testing is negative for MSH2 and MSH6. What is the most plausible cause of this test result?

a. MSH2/EPCAM germline mutations, rarely MSH6
b. MSH2 germline mutation
c. EPCAM germline mutation
d. MSH6 germline mutation

A

a. MSH2/EPCAM germline mutations, rarely MSH6

60
Q

Mutations in the FH gene cause this autosomal dominant condition that has an increased risk of kidney cancer. Which condition is this?

a. Familial Gastrointestinal Stromal Tumor Syndrome
b. Hereditary Leiomyomatosis Renal Cell Cancer Syndrome
c. Multiple Endocrine Neoplasia type 2
d. Hereditary Papillary Renal Cell Carcinoma

A

b. Hereditary Leiomyomatosis Renal Cell Cancer Syndrome

61
Q

MEN2B has a 50% de novo rate, and includes which of the following features:

a. Mucosal neuromas
b. Marfanoid features
c. Medullary thyroid cancer
d. Medullated corneal nerve fibers
e. All of the above

A

All of the above

Also ganglioneurmatosis in the GI tract, Pheos, and large lips

62
Q

Which of the following symptoms are NOT associated with Von Hippel Lindau Syndrome?

a. Endolymphatic sac tumors
b. Cataracts
c. Epididymal cystadenomas
d. Hemangioblastomas

A

b. Cataracts

VHL is not associated with cataracts but they do have retinal angiomas typically before age 30

63
Q

Muir Torre is most often associated with mutations in what gene?

A

MSH2

64
Q

What are the main clinical features of Muir Torre?

A

Occurrence of any of the LS cancers in addition to sebaceous adenomas, carcinomas, epitheliomas, and keratocanthomas

65
Q

Name the 3 main areas of concern for a person with a single pathogenic mutation in the FLCN gene.

a. Skin, lung, renal
b. Renal, colon, lung
c. Skin, renal, pancreatic
d. What the heck

A

a. Skin, lung, renal

skin= fibrofolliculomas, skin tags, angiofibromas, with >5 facial or truncal papules.
Lung = multi-bilateral lung cysts, spontaneous pneumothorax.
Renal = bilateral or multi clear cell renal carcinoma

66
Q

What is the general population versus the Ashkenazi Jewish population carrier frequency for BRCA1 and BRCA2 mutations?

a. 1/250 general and 1/30 AJ
b. 1/500-1/800 general and 1/25 AJ
c. 1/500-1/800 general and 1/40 AJ
d. 1/250 general and 1/40 AJ

A

c. 1/500-1/800 general and 1/40 AJ

67
Q

A prophylactic oophorectomy reduces a premenopausal woman’s risk of breast cancer
by__ and reduces her risk of ovarian cancer by __

a. 50% and 80-90%
b. 50% and 100%
c. 25% and 100%
d. 15% and 80-90%

A

a. 50% and 80-90%

68
Q

Which of the following statements are FALSE

a. DCIS is noninvasive
b. DCIS Comedo type has an increased risk of being invasive
c. LCIS has a 25-30% risk of invasive cancer
d. LCIS is a premalignant lesion

A

d. LCIS is a premalignant lesion

LCIS is NOT a premalignant lesion. It is only a marker for breast cancer. If LCIS is found on a biopsy the other breast is just as likely to get breast cancer. This is not the case in DCIS

69
Q

What tumor/cancer finding is the most suggestive of Li Fraumeni syndrome?

a. Breast cancer
b. Adrenocortical carcinoma
c. Choroid plexus tumor
d. Sarcoma

A

c. Choroid plexus tumor

Choroid plexus tumors in children are basically pathognomonic for LFS

70
Q

Hamartomas are usually most abundant in what body part in Peutz-Jeghers Syndrome?

a. R sided colon
b. L sided colon
c. Stomache
d. Small intestine

A

d. Small intestine

R sided adenomas are more common in Lynch syndrome.

71
Q

The most common symptoms in FAP of the colon are…

A

Bleeding and diarrhea

72
Q

What cancer do you see intussusception?

A

Juvenile polyposis (SMAD4 and BMPR1A)

73
Q

The characteristic translocation in Burkitt lymphoma is?

A

Involves the myc oncogene and an immunoglobulin locus

74
Q

Average age of bone marrow failure in Fanconi anemia is?

A

6 years

75
Q

Approximately 1% of children with the following develop hepatoblastoma:

FAP
Li Fraumeni
Ataxia telangiectasia
NF1
VHL

A

Hepatoblastoma develops in very young children and more recent publications recommend screening for hepatoblastoma in children identified to carry mutations in the APC gene. BWS also carries increased risk of hepatoblastoma.

76
Q

Missense mutations are the most common mutation found in which syndrome:

HBOC
Cowden
NF1
VHL
FAP

A

VHL (over 35%). The rest all have truncating mutations as predominant type

77
Q

Prophylactic thyroidectomy by age 5 is recommended for children who have?

A

MEN2A

(Recommended by age 1 in MEN2B)

78
Q

Lifetime risk of ovarian CA in BRCA1?

A

15-25%

79
Q

Lifetime risk of male breast CA in BRCA2?

A

5-10%

80
Q

What is the germline mosaicism rate for retinoblastoma?

A

7%

81
Q

Low penetrant retinoblastoma is associated with what type of mutation?

A

Splice site

82
Q

An autosomal dominant cancer predisposition syndrome that is the result of a mutation which activates an oncogene:

NF2
Juvenile polyposis coli
MEN2A
MEN1
Grolin

A

MEN2A

The RET gene is an oncogene

Board Prep (6 decks)

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