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Hereditary Cancer Syndromes Flashcards

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
MEN2A classic features
medullary thyroid carcinoma; hyperparathyroidism; pheochromocytoma
26
MEN2A: inherited v. de novo
95% inherited; 5% de novo
27
MEN2B classic features
medullary thyroid carcinoma; marfanoid habitus; mucosal neuromas; alicrima; everted eyelids; 50% risk for pheos
28
MEN2B: inherited v. de novo
50% inherited; 50% de novo
29
FMTC classic features
medullary thyroid carcinoma, with no other clinical findings; need many affected family members to make the dx; 100% cancer risk
30
VHL: common cancers/tumor types
retinal and CNS hemangioblastoma; Renal clear cell carcinoma; endolymphatic sac tumors; pheochromocytoma
31
MEN1 common clinical findings
angiofibromas; hyperparathyroidism
32
NF1: common clinical findings
cafe au lait macules; neurofibromas; axillary/inguinal freckling; lisch nodules
33
VHL: inherited v. de novo
80% inherited; 20% de novo
34
SDHB features
most paragangliomas occur in the trunk and abdomen (can occur in head/neck); increased risk for malignancy; AD
35
SDHD features
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
36
SDHC features
skull base and neck paragangliomas; less common than SDHD (4-8% of HPGL/PCC)
37
SDHAF2 features
skull base and neck paragangliomas; incidence is rare
38
SHDA features
rare; <3% of HPGL/PCC; primarily one PGL
39
Familial PC features
pheochromocytoma, parganglioma
40
Birt-Hogg-Dube: common cancers
chromophobe renal cell carcinoma
41
Birt-Hogg-Dube: common clinical findings
fibrofolliculoma; spontaneous pneumothorax
42
Peutz-Jeghers Syndrome: common cancers
CRC, gastric, breast, pancreatic, lung, gynecologic, sex-cord, small bowel
43
FAP polyp load
100s-1000s
44
FAP: inherited v. de novo rate
up to 30% de novo; 70% inherited (most families have unique mutations, genotype/phenotype correlations emerging)
45
FAP extracolonic features
CHRPE, dental anomalies, desmoids, fundic gland polyps, hepatoblastoma, epidermoid cysts
46
AFAP polyp load
>20 but <100
47
AFAP mutation hot spots
APC gene, 5' and 3' ends
48
MAP inheritance
Autosomal recessive (can appear suggestive of Lynch syndrome in some families)
49
MAP polyp load
usually at least 15, fewer than 1000s
50
MAP polyp type
adenomatous, a few may be hyperplastic; NOT associated with hamartomatous
51
Lynch syndrome lifetime risk for colon cancer
60-80%
52
Lynch syndrome CRC features
right-sided/ascending; signet ring; mucinous; medullary; tumor infiltrating lymphocytes; poorly differentiated
53
Lynch syndrome lifetime risk for endometrial cancer
40-60%
54
Which MMR gene has the highest associated with endometrial cancer
MSH6
55
Next step after IHC loss of MLH1/PMS2 staining
MLH1 methylation and BRAF mutation analysis; if negative, then proceed to MLH1 sequencing
56
Percentage of Lynch syndrome tumors with MSI
95%
57
Homozygous mutations in MLH1, MSH2, MSH6, or PMS2
Constitutional Mismatch Repair Deficiency (CMMRD)
58
CMMRD features
Very early onset CRC; duodenal cancer; leukemia; lymphoma; childhood brain tumors; cafe-au-lait spots
59
Familial Colorectal Cancer type X
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
Muir-Torre Syndrome
A variant of Lynch syndrome
61
Muir-Torre genes and features
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
PJS polyp type
peutz-jegher polyps; can have hamartomatous polyps
63
JPS polyp type and location
juvenile polyps; can have hamartomatous polyps or mixed adenomatous; can occur anywhere in the GI tract
64
Turcot syndrome
Rare; multiple colorectal adenomas and primary brain tumors
65
Turcot syndrome - APC mutation
Medulloblastomas
66
Turcot syndrome - MMR mutation
Glioblastoma
67
PJS clinical features
blue/black pigmentation of the buccal mucosa; intussusception; GI bleeding; can see gynecomastia
68
PJS polyp load and location
<100; most commonly in the small intestine (jejunum), usually in the stomach to rectum; may develop in the respiratory tract and urinary tract
69
Hereditary Hemorrhagic Telangiectasia (HHT)
Subset of patients with SMAD4 mutations; have JP and HHT
70
HHT features
GI and pulmonary arteriovenous malformations; mucocutaneous telangiectasias
71
Hereditary diffuse gastric cancer (HDGC) - associated protein
e-Cadherin
72
HDGC lifetime risk for DIFFUSE gastric cancer
>70%
73
HDGC treatment
prophylactic total gastrectomy (usually after age 20); high risk options for breast cancer risk management
74
OCPs reduce the risk for which cancers?
ovarian and endometrial
75
What cancers are incorporated into BRCAPRO for the risk for a BCRA1/2 mutation?
Breast cancer (male and female), ovarian cancer
76
Detection rate of CDH1 mutations
30-50%
77
Medulloblastoma occurs in a high frequency in which syndromes?
Gorlin (nevoid basal cell carcinoma); and Turcot
78
What is the purpose of Bethesda criteria?
To identify a colorectal tumor that should be evaluated for MSI
79
What age to most patient with NF1 meet clinical criteria
8y
80
Features of Legius syndrome
Similar to NF1, WITHOUT neurofibromas or optic gliomas; will see cafe-au-lait macules and axillary/inguinal freckling
81
Factors to take into consideration prior to prophylactic colectomy in a patient with FAP
symptoms, number and location of polyps, risk for CRC in the near future, and compliance with continues surveillance
82
Which germline mutations have schwannomas as a characteristic finding?
NF2 and SMARCB1 (schwannomatosis)
83
What is pathognomonic of nevoid basal cell carcinoma syndrome?
Calcification of the falx
84
Results of the WHI study regarding HRT
estrogen + progesterone increases breast cancer risk; estrogen alone has no effect on breast cancer risk
85
NF1 clinical features
hyperpigmented lesions; Lisch nodules; trouble learning;
86
Nevoid Basal cell carcinoma/Gorlin syndrome - clinical features
Falx calcification, jaw keratocysts, palmar/plantar pits; medulloblastoma, nevoid BCC
87
FAP average age of CRC diagnosis
40y
88
PJS - common cancers
Gastric, breast, ovarian, pancreatic, cervix (rare, agressive), sex cord tumors
89
JPS lifetime cancer risk
10-50%
90
Xeroderma Pigmentosum cancer risk
Melanoma
91
Ataxia Telangienctasia cancer risk
lymphoma, leukemia
92
Rubinstein-Taybe cancer risk
meningioma, pilomatrixoma, leukemia

Cancer Genetics (2 decks)

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