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Cancer genetics Flashcards

1
Q

Proto-oncogenes (2)

A

RET, MET

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2
Q

Tumor Suppressor Genes (10)

A

APC, VHL, RB1, NF1, TP53, P16, PTCH, MEN1, BRCA1, BRCA2

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3
Q

Mismatch Repair Genes

A

MAH2, MSH6, MLH1, PMS2, ATM, BLM, XP genes

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4
Q

Recessive cancer genes

A

MUTYH, ATM

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5
Q

Multiple endocrine neoplasia 2 (MEN2)

A 
RET gene
Medullary thyroid carcinoma
95-100% lifetime risk
Can cause childhood cancer
Pheochromocytomas
Hyperparathyroidism
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6
Q

Retinoblastoma

A

RB1 gene
30-40% inherited
Dx <1 year indicates hereditary mutation

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7
Q

NF1

A

NF1 gene
50% de novo rate
Neurofibromas,CALs, axillary/inguinal freckling, optic glioma

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8
Q

Mosaic Turner

A

Increased risk for gonadoblastoma

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9
Q

XXY

A

Increased risk for breast cancer

Man with breast cancer is more likely XXY than BRCA positive

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10
Q

Cowden syndrome

A

PTEN gene
20-30% lifetime risk of breast cancer
Macrocephaly
Multiple hamartoma syndrome

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11
Q

Familial Adenomatous Polyposis (FAP)

A

APC gene
25% de novo
Tumors: Adenocarcinoma, brain (medulloblastoma), desmoid (benign), polyps
-Classic FAP: 100+ polyps
-Attenuated FAP: 10-100 polyps
Fam hx: CRC, heptoblastoma, desmoid tumors, dental abnormalities, CHRPE

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12
Q

Juvenile Polyposis syndrome

A

SMAD4, BMPR1A
Tumors: colon, juvenile polyps (benign), stomach, small intestine
Clinical dx: 5+ juvenile polyps (most have one by age 20)
- mutations only account for 40%
*SMAD4: think HHT

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13
Q

MYH-associated Polyposis syndrome

A

MYH biallelic mutations (AR)

- 15+ Adenomatous polyps and/or MSI-stable CRC under 50y

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14
Q

Proto-oncogenes (2)

A

RET, MET

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15
Q

Tumor Suppressor Genes (10)

A

APC, VHL, RB1, NF1, TP53, P16, PTCH, MEN1, BRCA1, BRCA2

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16
Q

Mismatch Repair Genes

A

MAH2, MSH6, MLH1, PMS2, ATM, BLM, XP genes

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17
Q

Recessive cancer genes

A

MUTYH, ATM

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18
Q

Multiple endocrine neoplasia 2 (MEN2)

A 
RET gene
Medullary thyroid carcinoma
95-100% lifetime risk
Can cause childhood cancer
Pheochromocytomas
Hyperparathyroidism
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19
Q

Retinoblastoma

A

RB1 gene
30-40% inherited
Dx <1 year indicates hereditary mutation

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20
Q

NF1

A

NF1 gene
50% de novo rate
Neurofibromas,CALs, axillary/inguinal freckling, optic glioma

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21
Q

Trisomy 21

A

20x increased risk of leukemia

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22
Q

Genes accounting for HBC by percent

A

52% BRCA1
32% BRCA2
16% other (PTEN, TP53, ATM, CDH1, NF1, MUTYH)

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23
Q

Ataxia Telangiectasia

A

ATM, autosomal recessive
30-40% lifetime risk of cancer
Most common: NHL and leukemia
Others: medulloblastoma, glioma, gastric, uterine, BCC, breast
Radiation not recommended
Female heterozygous have 2x increased risk of breast cancer

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24
Q

Birt-Hogg-Dube

A 
FLCN, autosomal dominant
7x increased risk of kidney cancer
Oncocytoma, chromophobe, clear cell
Average age of cancer onset is 48
Other features: skin findings (benign tumors of the hair follicles called fibrofolliculomas &amp; trichodiscomas), lung findings (lung cysts, spontaneous pneumothorax)
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25
Q

Bloom syndrome

A

BLM, autosomal recessive
Increased risk of cancer especially early in life
Often develop multiple primaries
Most common: colon cancer
Others: lymphoma, leukemia, Wilms tumor, breast, cervix, esophagus, skin, lung, stomach
Other features: IUGR, butterfly rash, hypersensitivity to sun, ID, sparse fat, male infertility and female reduced fertility

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26
Q

Hereditary Breast & Ovarian Cancer (BRCA1)

A 
autosomal dominant
Breast cancer risk 50-80%
Ovarian cancer risk 40-60%
Male breast cancer risk 1%
Pancreatic cancer risk 1-7%
Prostate cancer risk 15%
Melanoma risk <2%
**BRCA1 earlier breast cancer than BRCA1
**80% BRCA1 tumors are triple negative
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27
Q

Hereditary Breast & Ovarian Cancer (BRCA2)

A

autosomal dominant
Breast cacner risk 40-70%
Ovarian cancer risk 15-20%
Male breast cancer risk 6-7% (more than BRCA1)
Pancreatic cancer risk 1-7% (more than BRCA1)
Prostate cancer risk 15%
Melanoma risk 2-5% (more than BRCA1)

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28
Q

Carney Complex

A

PRKAR1A, autosomal dominant
Increased risk of benign & malignant tumors
Large-cell calcifying Sertoli cell tumors (LCCSCTs), in almost all males,
Follicular thyroid adenomas (in 75%),
GH-producing adenomas (causes acromegaly),
Myxomas (cutaneous & cardiac) - benign,
Schwannomas
**skin findings: blue nevi, CAL macules, lentigines (increasing in puberty)

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29
Q

Familial Adenomatous Polyposis

A

APC, autosomal dominant
25% de novo
100% lifetime risk of colon cancer (hundreds of thousands of adenomatous polyps)
Other tumor risks: medulloblastoma, desmoid (benign, abdominal), hepatoblastoma (childhood), fundic gland polyps, dental abnormalities, CRPE, papillary thyroid cancer

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30
Q

FAP subtypes

A

AFAP, Gardners, Turcot, Deletion 5q22

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31
Q

AFAP

A

Fewer polyps (10-100) at older ages

32
Q

Gardner syndrome

A

Polyposis, & CRC PLUS benign tumors in many different organs: epidermoid cysts, lipomas, desmoid tumors, fibromas, osteomas of mandible, dental abnormalities, CHRPE

33
Q

Turcot syndrome

A

Polyposis & FAP PLUS brain tumors (medulloblastoma)

34
Q

5q22 deletion

A

FAP PLUS mild/moderate intellectual disabilities and dysmorphisms

35
Q

Fanconi Anemia

A

FANC__ (BRCA2, BRIP1, PALB2, etc)
65% FANCA
Autosomal recessive (FANCB X-linked)
Increased risk of Leukemia (usually AML)
Increased risk of squamous cell carcinoma, hepatocellular cancer, brain tumors, vulva & cervix cancer
Other features: aplastic anemia, BM failure, skin hyperpigmentation, thumb abnormalities, skeletal deformities, growth retardation

36
Q

Hereditary Diffuse Gastric Cancer

A

CDH1, autosomal dominant
Increased risk gastric cancer (83% women, 67% men)
Surgical intervention: gastrectomy
Increased risk lobular breast cancer (39-52%)
Other cancer risks: Signet ring colon cancer, islet cell pancreatic cancer

37
Q

Juvenile Polyposis syndrome

A 
BMPR1A &amp; SMAD4, autosomal dominant
(think HHT for SMAD4 also)
Mutations only account for 40%
Increased risk colon cancer (10-50%)
4-100 polyps, usually by the age of 20
Increased risk other GI cancer: stomach, duodenum, small intestine, pancreas
38
Q

Hereditary Mixed Polyposis

A

BMPR1A, GREM1, autosomal dominant
Increased risk colon cancer
?Subtype of juvenile polyposis syndrome
Polyps of mixed histological type: juvenile, adenomas, hyperplastic lesions

39
Q

Hereditary leiomyomatosis & RCC

A

FH, autosomal dominant
10-16% lifetime risk of renal cell carcinoma (most are papillary type II)
Other findings: skin lesions (cutaneous leiomyomas), gyn tumors in almost all women (uterine leiomyoma/fibroids)

40
Q

Li-Fraumeni

A

TP53, autosomal dominant
90% cancer risk by 60, 50% risk by 30
Up to 50% risk of second cancer
Radiation not recommended
Sarcomas, brain tumors, (choroid plexus carcinoma & adrenal cortical carcinoma), leukemia, breast (6.4x increased risk)
Lifetime risk higher in women due to breast cancer

41
Q

Lynch syndrome

A 
MLH1, MSH2, MSH6, PMS2, EPCAM
Autosomal dominant
Causes 2-5% of all colon cancer
70-80% lifetime risk of CRC
30-60% risk endometrial cancer
Up to 19% risk stomach cancer
Up to 13% risk ovarian cancer
Other cancers: skin, glioblastoma, small intestine
Features of CRC: right-sided (proximal colon), signet ring histology, MSI-high, protein absence on IHC, sessile polyps (<10), negative BRAF V600 testing
42
Q

Congenital mismatch repair deficiency syndrome (CMMRD)

A

Biallelic Lynch gene mutations, autosomal recessive
Very high risk cancer in childhood/adolesence
Cancer types: colon, stomach, small intestine, leukemia, lymphoma, brain tumors
>75% have 1+ CAL macule and NF1 may be initially suspected

43
Q

Lynch subtypes

A

Muir-Torre syndrome, Turcot syndrome

44
Q

Muir-Torre syndrome

A

Lynch PLUS higher risks of cancerous/precancerous skin lesions (subaceous adenomas, carcinomas, epitheliomas, keratocanthomas)
Many with mutations in MSH2 (Many Skin 2)

45
Q

Turcot syndrome (Lynch subtype)

A

Lynch PLUS brain tumors (mostly glioblastomas)

Families with PMS2 may have higher brain tumor risk

46
Q

Familial atypical multiple mole & melanoma syndrome (FAMMM)

A

CDKN2A, CDK4, autosomal dominant (incomplete penetrance)
67% lifetime risk of cutaneous malignant melanoma,
Up to 17% risk of pancreatic cancer w/ CDKN2A,
Other genes to consider: XP genes, BAP1, TERT, RB1,
MC1R mutations have higher penetrance than CDKN2A mutations
Ocular melanoma? think BRCA2 & BAP1

47
Q

Multiple endocrine neoplasia 1

A

MEN1, autosomal dominant (variable expressivity)
Mostly benign: pituitary, meningiomas, lipomas, leiomyomas, angiofibromas
Some malignant: GISTs, ACCs, nonmedullary thyroid, schwannomas/peripheral sheath tumors, insulinomas, gastriomas

48
Q

Multiple endocrine neoplasia 2

A

Types: MEN2A, MEN2B, FMTC
RET, gain of function mutations only, autosomal dominant
95-100% risk of medullary thyroid cancer (~25% of mTCs will have RET mutations)

49
Q

MEN2A

A

Most common subtype of MEN2 (70-80%)
95% MTC risk
50% pheo risk
20-30% parathyroid disease

50
Q

MEN2B

A

100% MTC risk (often <10 years & aggressive)
50% pheo risk
40% diffuse ganglioneuromatosis
Marfanoid habitus, developmental delay, parathyroid disease (rare)
50% de novo, only accounts for 5% of MEN2

51
Q

FMTC

A

MTC ONLY

16-20% of MEN2 cases

52
Q

DICER1 syndrome

A

20% lifetime cancer risk (highest risk under age 7)
Cancers: pleuropulmonary blastomas (PPB), Wilms tumor, Sertoli-leydig (ovarian) tumors
Other features: cystic nephromas, goiter, nasal hamartomas, CHDs

53
Q

MUTYH-Associated Polyposis (MAP)

A

MYH, autosomal recessive
1-2% of population carries one mutation
Up to 80% lifetime risk of CRC
Few to hundreds of polyps (average of ~20)
Significant overlap with FAP: fundic gland polyps, jaw osteomas, dental cysts, CHRPE
Need to rule out FAP and Lynch!

54
Q

Neurofibromatosis 1

A

NF1, autosomal dominant
3-15% risk of malignant peripheral nerve sheath tumors
Other features: CAL macules, neurofibromas, optic gliomas, GISTS, breast cancer (3-5x increased risk), axillary & inguinal freckling, Lisch nodules, sphenoid dysplasia

55
Q

Nevoid Basal Cell Carcinoma (NBCCS)/Gorlin syndrome

A

PTCH, autosomal dominant,
20-30% de novo, variable expressivity
Increased risk developing multiple BCCs (90% caucasians, 40% AA)
Average age of first BCC is 20-25
Other features: keratocystic jaw (75%), palmar/plantar pits (80%), lamellar calcification of the falx cerebri (90%), ovarian fibromas (20%), rib & skeletal anomalies, macrocephaly, medulloblastoma

56
Q

Wilms Tumor

A

WT1, autosomal dominant (11p13)
>90% sporadic, 5-7% hereditary
think WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability)
Risk until 8 years

57
Q

Neuroblastoma

A

ALK, autosomal dominant (incomplete penetrance)
55-65% risk of NB
Ganglioneuroblastomas, ganglioneuromas
GI stuff

58
Q

Hereditary Paraganglioma/Pheochromocytoma

A

SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127
Autosomal dominant
Highest risk of tumors in SDHB
SDHD tumors only if paternally inherited
Increased risk of paras and pheos
Other cancers; RCC, GIST, thyroid
10-20% chance of mutation in isolated paras/pheos
Secreting pheos release catecholamines causing increased BP (look for death in surgery), panic attacks, anxiety, palpitations
IHC can be done for SDHB to show loss of one of the SDH genes

59
Q

Rhabdoid tumor

A

SMARCB1, autosomal dominant
Kidney/brain tumors
Schwannoma in later life

60
Q

Peutz-Jeghers Syndrome

A

STK11, autosomal dominant
85% lifetime risk of cancer, namely GI tract
Other cancers: kidney, lung, thyroid, breast (30%)
Features: hamartomatous polyps, ovarian adenocarcinoma, SCTAT (benign ovary tumors), benign Sertoli tumors of the testes, blue/brown hyperpigmented macules, cervical adenoma malignum

61
Q

Cowden syndrome

A

PTEN, autosomal dominant
25-50% lifetime risk of breast cancer
6-10% lifetime risk endometrial cancer
10% lifetime risk of thyroid cancer (mostly follicular)
Other cancers: CRC, kidney, uterine
Features: facial trichilemmomas, acral keratoses, palillomatous lesions, adult Lhermitte-Duelos Disease (LDD), intellectual disability, lipomas, macrocephaly, goiter

62
Q

Hereditary Papillary RCC (HPRCC)

A

MET, autosomal dominant
Nearly 100% LT risk of kidney cancer (papillary type I RCC)
Cancer onset typically between 35-55

63
Q

Retinoblastoma

A

RB!, autosomal dominant
Up to 33% de novo
90% risk of unilateral or bilateral retinal tumors
26% likelihood of second primary (mostly osteosarcomas)
40% of all RB cases are hereditary

64
Q

Tuberous sclerosis complex

A

TSC1, TSC2, autosomal dominant
>60% de novo
6-14% risk of childhood brain tumors
2-5% risk of renal cell carcinomas (onset 28 years)
>50% born with cardiac rhabdomyomas
Benigh lesions: facial angiofibroma, ungual fibromas, shagreen patch, retinal hamartomas, cortical tubers (brain tumor), astrocytoma, LAM
80% have seizures, 50% severe LD/ADHD/autism

65
Q

Von-Hippel-Lindau

A

VHL, autosomal dominant
20% de novo
25-40% risk of clear cell RCC
7-25% risk of islet cell tumors of the pancreas
3-17% risk of pheochromocytomas
70% have retinal angiomas (benign) - can occur in childhood
Pathognomonic: hemangioblastoma
Endolymphatic sac tumors can cause HL and vertigo/tinnitus

66
Q

Philadelphia chromosome

A

cytogenetic finding used to diagnose CML (present in 90-95% of cases)
t(9;22)(q34;q11.2)

67
Q

Nijmegen syndrome

A

NBN, autosomal recessive
50x increased risk of developing cancer
~50% risk of NHL
Other cancers: medulloblastoma, glioma, rhabdomyosarcoma
Features: short stature, intellectual disability, progressive microcephaly, facial dysmorphism, immunodeficiency, females infertile

68
Q

Xeroderma Pigmentosum

A

XP__, autosomal recessive
Increased risk of skin cancer
~50% have had skin cancer by 10 years
Features: skin findings (severe freckling, blistering, irregular pigmentation), ocular defects & vision problems, internal malignancies, neurological problems (HL, intellectual disability, microcephaly, etc) in 30%

69
Q

BAP1 tumor predisposition syndrome

A

BAP1`, autosomal dominant
Cancers: ocular melanoma, malignant mesothelioma, RCC, BCC, atpical melanocytic tumors (MBAITs)
Near the VHL locus

70
Q

Oncogenes definition

A

dominant growth promoting genes that originate from proto-oncogenes
ex: RET

71
Q

Tumor suppressor genes definition

A

Negatively regulate cell growth, causes cancer when inactivated
ex: TP53

72
Q

Mismatch repair genes definition

A

Fix nucleotide errors made during replication

ex: FANCC

73
Q

Thyroid cancer histology

A

Follicular (Cowden, Carney)
Medullary (MEN2A, MEN2B, FMTC)
Papillary (FAP)

74
Q

Renal cancer histology

A 
Papillary type I (HPRCC, gene: C-MET)
Papillary type II (HLRCC, gene: FH)
Clear cell (VHL, BAP1)
Chromophobe/oncocytoma (BHD, gene: FLCN)
75
Q

Neurofibromatosis 2

A

NF2
Vestibular schwannomas (AKA: Grace)
Ear things

76
Q

Risk factors for male breast cancer

A

Genetic mutation (BRCA2)
Age
Gynecomastia (Klinefelters)

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