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Cancer Genetics > Hereditary Cancer Syndromes > Flashcards

Hereditary Cancer Syndromes Flashcards

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1
Q

BRCA1 lifetime cancer risks

A

Breast - up to 85%; ovarian - up to 45%; prostate, male breast, melanoma and pancreatic likely increased

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2
Q

HBOC risk for a second primary breast cancer

A

60%

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3
Q

BRCA2 lifetime cancer risks

A

Breast - up to 85%; ovarian - up to 25%; male breast - 6-7%; prostate - up to 20%; pancreatic, melanoma likely increased

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4
Q

BRCA1 tumor pathology

A

more likely to be triple negative

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5
Q

BRCA2 tumor pathology

A

more likely to be ER/PR+

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6
Q

TAH/BSO risk reduction

A

96% ovarian cancer risk reduction; 50% breast cancer risk reduction if done prior to menopause

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7
Q

Bilateral mastectomy risk reduction

A

90% risk reduction

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8
Q

Cowden syndrome features

A

macrocephaly, trichilemmomas and papillomatous papules, cobblestone gums, goiter, autism spectrum disorder/MR (Lhermite Duclos, benign brain tumor)

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9
Q

Cowden syndrome cancer risks

A

breast cancer, endometrial cancer, thyroid cancer

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10
Q

Cowden syndrome polyp type

A

hamartomatous

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11
Q

Cowden syndrome thyroid cancer pathology

A

follicular, sometimes papillary, NEVER medullary

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12
Q

Bannayan-Riley-Ruvacalba features

A

macrocephaly, hamartomatous polyposis, speckled penis, DD

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13
Q

Proteus syndrome features

A

connective tissue nevi, disproportionate overgrowth (hemihypertrophy), lipomas or absence of fat, vascular malformation

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14
Q

CHEK2 common mutation

A

1100delC

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15
Q

HDGC breast cancer pathology

A

Lobular breast cancer (50% risk)

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16
Q

PJS lifetime breast cancer risk

A

approximately 50%

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17
Q

LFS: common cancers

A

ACC, Sarcomas, Breast cancer, Leukemia, Brain (choroid plexus); ACC and brain choroid plexus tumors most predictive of a p53 mutation

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18
Q

LFS: inherited v. de novo

A

80% inherited, 20% de novo

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19
Q

MEN1: common cancers

A

thymic gland; carcinoid tumors of the thymus gland, lung, and stomach (gastrinomas); parathyroid, pituitary, and pancreatic tumors (pituitary adenomas, prolactinoma)

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20
Q

HDGC: common cancers

A

diffuse gastric cancer; lobular breast cancer

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21
Q

HBOC: common cancers

A

breast, ovarian (fallopian, primary peritoneal), prostate, pancreatic

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22
Q

HBOC: founder effect

A

Ashkenazi Jewish, 1/40 carrier frequency

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23
Q

HLRCC: common cancers

A

leiomyomas of the skin and uterus (cutaneous leiomyomas); papillary type II

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24
Q

Lynch syndrome: common cancers

A

CRC, endometrial, gastric, ovarian, hepatobiliary, urinary tract (renal pelvis, ureter), small bowel, glioblastoma, sebaceous carcinomas

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25
Q

MEN2A classic features

A

medullary thyroid carcinoma; hyperparathyroidism; pheochromocytoma

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26
Q

MEN2A: inherited v. de novo

A

95% inherited; 5% de novo

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27
Q

MEN2B classic features

A

medullary thyroid carcinoma; marfanoid habitus; mucosal neuromas; alicrima; everted eyelids; 50% risk for pheos

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28
Q

MEN2B: inherited v. de novo

A

50% inherited; 50% de novo

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29
Q

FMTC classic features

A

medullary thyroid carcinoma, with no other clinical findings; need many affected family members to make the dx; 100% cancer risk

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30
Q

VHL: common cancers/tumor types

A

retinal and CNS hemangioblastoma; Renal clear cell carcinoma; endolymphatic sac tumors; pheochromocytoma

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31
Q

MEN1 common clinical findings

A

angiofibromas; hyperparathyroidism

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32
Q

NF1: common clinical findings

A

cafe au lait macules; neurofibromas; axillary/inguinal freckling; lisch nodules

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33
Q

VHL: inherited v. de novo

A

80% inherited; 20% de novo

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34
Q

SDHB features

A

most paragangliomas occur in the trunk and abdomen (can occur in head/neck); increased risk for malignancy; AD

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35
Q

SDHD features

A

parent of origin effect, at risk if gene mutation is inherited from father; head/neck paragangliomas (parasympathetic); high number of tumors, low probability for malignancy

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36
Q

SDHC features

A

skull base and neck paragangliomas; less common than SDHD (4-8% of HPGL/PCC)

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37
Q

SDHAF2 features

A

skull base and neck paragangliomas; incidence is rare

38
Q

SHDA features

A

rare; <3% of HPGL/PCC; primarily one PGL

39
Q

Familial PC features

A

pheochromocytoma, parganglioma

40
Q

Birt-Hogg-Dube: common cancers

A

chromophobe renal cell carcinoma

41
Q

Birt-Hogg-Dube: common clinical findings

A

fibrofolliculoma; spontaneous pneumothorax

42
Q

Peutz-Jeghers Syndrome: common cancers

A

CRC, gastric, breast, pancreatic, lung, gynecologic, sex-cord, small bowel

43
Q

FAP polyp load

A

100s-1000s

44
Q

FAP: inherited v. de novo rate

A

up to 30% de novo; 70% inherited (most families have unique mutations, genotype/phenotype correlations emerging)

45
Q

FAP extracolonic features

A

CHRPE, dental anomalies, desmoids, fundic gland polyps, hepatoblastoma, epidermoid cysts

46
Q

AFAP polyp load

A

> 20 but <100

47
Q

AFAP mutation hot spots

A

APC gene, 5’ and 3’ ends

48
Q

MAP inheritance

A

Autosomal recessive (can appear suggestive of Lynch syndrome in some families)

49
Q

MAP polyp load

A

usually at least 15, fewer than 1000s

50
Q

MAP polyp type

A

adenomatous, a few may be hyperplastic; NOT associated with hamartomatous

51
Q

Lynch syndrome lifetime risk for colon cancer

A

60-80%

52
Q

Lynch syndrome CRC features

A

right-sided/ascending; signet ring; mucinous; medullary; tumor infiltrating lymphocytes; poorly differentiated

53
Q

Lynch syndrome lifetime risk for endometrial cancer

A

40-60%

54
Q

Which MMR gene has the highest associated with endometrial cancer

A

MSH6

55
Q

Next step after IHC loss of MLH1/PMS2 staining

A

MLH1 methylation and BRAF mutation analysis; if negative, then proceed to MLH1 sequencing

56
Q

Percentage of Lynch syndrome tumors with MSI

A

95%

57
Q

Homozygous mutations in MLH1, MSH2, MSH6, or PMS2

A

Constitutional Mismatch Repair Deficiency (CMMRD)

58
Q

CMMRD features

A

Very early onset CRC; duodenal cancer; leukemia; lymphoma; childhood brain tumors; cafe-au-lait spots

59
Q

Familial Colorectal Cancer type X

A

Families that meet Amsterdam, do not have a detectable mutation or MSI in colon tumor; do not show the other Lynch-associated cancers; may show later ages of onset

60
Q

Muir-Torre Syndrome

A

A variant of Lynch syndrome

61
Q

Muir-Torre genes and features

A

Mostly MSH2, some with MLH1 mutations; typical features of Lynch syndrome WITH sebaceous carcinomas (tumors of the sweat glands), particularly in the head/neck area, and Keratoacanthomas

62
Q

PJS polyp type

A

peutz-jegher polyps; can have hamartomatous polyps

63
Q

JPS polyp type and location

A

juvenile polyps; can have hamartomatous polyps or mixed adenomatous; can occur anywhere in the GI tract

64
Q

Turcot syndrome

A

Rare; multiple colorectal adenomas and primary brain tumors

65
Q

Turcot syndrome - APC mutation

A

Medulloblastomas

66
Q

Turcot syndrome - MMR mutation

A

Glioblastoma

67
Q

PJS clinical features

A

blue/black pigmentation of the buccal mucosa; intussusception; GI bleeding; can see gynecomastia

68
Q

PJS polyp load and location

A

<100; most commonly in the small intestine (jejunum), usually in the stomach to rectum; may develop in the respiratory tract and urinary tract

69
Q

Hereditary Hemorrhagic Telangiectasia (HHT)

A

Subset of patients with SMAD4 mutations; have JP and HHT

70
Q

HHT features

A

GI and pulmonary arteriovenous malformations; mucocutaneous telangiectasias

71
Q

Hereditary diffuse gastric cancer (HDGC) - associated protein

A

e-Cadherin

72
Q

HDGC lifetime risk for DIFFUSE gastric cancer

A

> 70%

73
Q

HDGC treatment

A

prophylactic total gastrectomy (usually after age 20); high risk options for breast cancer risk management

74
Q

OCPs reduce the risk for which cancers?

A

ovarian and endometrial

75
Q

What cancers are incorporated into BRCAPRO for the risk for a BCRA1/2 mutation?

A

Breast cancer (male and female), ovarian cancer

76
Q

Detection rate of CDH1 mutations

A

30-50%

77
Q

Medulloblastoma occurs in a high frequency in which syndromes?

A

Gorlin (nevoid basal cell carcinoma); and Turcot

78
Q

What is the purpose of Bethesda criteria?

A

To identify a colorectal tumor that should be evaluated for MSI

79
Q

What age to most patient with NF1 meet clinical criteria

A

8y

80
Q

Features of Legius syndrome

A

Similar to NF1, WITHOUT neurofibromas or optic gliomas; will see cafe-au-lait macules and axillary/inguinal freckling

81
Q

Factors to take into consideration prior to prophylactic colectomy in a patient with FAP

A

symptoms, number and location of polyps, risk for CRC in the near future, and compliance with continues surveillance

82
Q

Which germline mutations have schwannomas as a characteristic finding?

A

NF2 and SMARCB1 (schwannomatosis)

83
Q

What is pathognomonic of nevoid basal cell carcinoma syndrome?

A

Calcification of the falx

84
Q

Results of the WHI study regarding HRT

A

estrogen + progesterone increases breast cancer risk; estrogen alone has no effect on breast cancer risk

85
Q

NF1 clinical features

A

hyperpigmented lesions; Lisch nodules; trouble learning;

86
Q

Nevoid Basal cell carcinoma/Gorlin syndrome - clinical features

A

Falx calcification, jaw keratocysts, palmar/plantar pits; medulloblastoma, nevoid BCC

87
Q

FAP average age of CRC diagnosis

A

40y

88
Q

PJS - common cancers

A

Gastric, breast, ovarian, pancreatic, cervix (rare, agressive), sex cord tumors

89
Q

JPS lifetime cancer risk

A

10-50%

90
Q

Xeroderma Pigmentosum cancer risk

A

Melanoma

91
Q

Ataxia Telangienctasia cancer risk

A

lymphoma, leukemia

92
Q

Rubinstein-Taybe cancer risk

A

meningioma, pilomatrixoma, leukemia

Cancer Genetics (2 decks)

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