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Cancer Genetic Counseling > Hereditary Cancer Syndromes > Flashcards

Hereditary Cancer Syndromes Flashcards

1
Q

What genes are associated with HBOC?

A

BRCA1/2

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2
Q

What is the absolute risk for breast cancer, ovarian cancer, and pancreatic cancer with a BRCA1 mutation?

A

Breast: > 60%
Ovarian: 39%-58%
Pancreatic: <= 5%

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3
Q

What is the absolute risk for breast, ovarian, and pancreatic cancer with a BRCA2 mutation?

A

Breast: > 60%
Ovarian: 13%-29%
Pancreatic: 5%-10%

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4
Q

What treatment/medication is used for individuals with BRCA1/2 mutations?

A

PARP inhibitors

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5
Q

What cancer types are associated with mutations in ATM?

A

Breast, pancreatic, ovarian, prostate, GI (homozygous = Ataxia Telangiectasia)

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6
Q

What cancer is associated with mutations in BARD1?

A

Female breast cancer

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7
Q

What cancers are associated with BRIP1 mutations?

A

Female breast cancer, ovarian cancer (AR = Fanconi Anemia)

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8
Q

CDH1

A

Breast & gastric cancer (Hereditary Diffuse Gastric Cancer Syndrome)

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9
Q

CHEK2

A

Breast, colon, prostate, kidney, thyroid - type of variant can impact risk

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10
Q

PALB2

A

female & male breast, pancreatic, ovarian, prostate

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11
Q

MSH6 & PMS2

A

Lynch Syndrome (2 of 5) - female breast, colorectal, endometrial, ovarian, gastric, pancreatic, bladder

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12
Q

NF1

A

Neurofibromatosis Type 1 - female breast, brain tumors, leukemia, GIST (gastrointestinal stromal tumors), paragangliomas

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13
Q

PTEN

A

Cowden syndrome - breast, thyroid, kidney, uterine/endometrial, colorectal, melanoma

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14
Q

RAD51C & RAD51D

A

female breast, ovarian (AR = Fanconi Anemia)

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15
Q

STK11

A

Peutz-Jeghers Syndrome - breast, CRC, pancreatic, stomach, ovarian, lung, small intestine

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16
Q

TP53

A

Li-Fraumeni Syndrome - breast, CRC, pancreatic, endometrial, gastric, melanoma, ovarian
** think BONE, BRAIN, BLOOD, BREAST**
rhabdomyosarcoma, osteosarcomas, other soft tissue sarcomas, and all the weird rare cancers too

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17
Q

When receiving a positive germline TP53 result (and when mosaic), what next step should you take?

A

Confirm TP53 positive on a different tissue type (fibroblast)

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18
Q

Tumor Suppressor or Oncogene - TP53

A

Tumor suppressor “guardian of the genome”

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19
Q

What genes make up Lynch Syndrome?

A

MLH1, MSH6, PMS2, EPCAM, MSH2

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20
Q

Which Lynch Syndrome genes are Mismatch Repair Proteins?

A

MLH1, MSH2, MSH6, and PMS2

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21
Q

Which Lynch Syndrome gene is NOT a MMR protein, and what is it?

A

EPCAM - epithelial cell adhesions molecule protein

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22
Q

What proportions of Lynch Syndrome are associated with each LS gene?

A

MLH1: 15-40%
MSH2: 20-40%
EPCAM: <10%
MSH6: 12-35%
PMS2: 2-25%

23
Q

Which Hereditary Polyposis Syndromes are adenomatous?

A

Familial adenomatous polyposis syndrome (FAP), MUTYH-associated polyposis (MAP), and serrated polyposis syndrome

24
Q

Which Hereditary Polyposis Syndromes are hamartomatous?

A

Peutz-Jeghers Syndrome & Familial Juvenile Polyposis

25
Q

Which gene is associated with classic FAP?

A

APC (tumor suppressor)

26
Q

Which gene is associated with attenuated FAP?

A

APC (tumor suppressor)

27
Q

Which gene is associated with Peutz-Jeghers Syndrome?

A

STK11

28
Q

What gene is associated with Von Hippel-Lindau Syndrome?

A

VHL

29
Q

What cancer risks are associated with VHL?

A

Hemangioblastomas, RCC, blood vessel rich tumors of brain, spinal cord, and retina

30
Q

What does WAGR stand for?

A

Wilms tumor
Aniridia (absence of iris)
Genitourinary malformation
R (mental retardation) .. that feels icky

31
Q

Fraisier syndrome

A

neuropathy due to glomerulosclerosis (WT1)

32
Q

Denys-Drash syndrome

A

nephrotic syndrome from mesangial sclerosis

33
Q

Beckwith-Wiedman syndrome

A

10% risk for Wilms tumor

34
Q

What genes are associated with melanoma?

A

CDKN2A, CDK4, BAP1, MITF

35
Q

CDKN2A

A

tumor suppressor - melanoma, pancreatic, neural tumors

36
Q

BAP1

A

tumor suppressor - dermal lesions, melanoma, eye (uveal) melanoma, renal, mesothelioma

37
Q

MITF

A

transcription factor - melanoma, renal

38
Q

Nevoid BCC

A

Gorlin Syndrome - PTCH1, SUFU
BCC, medulloblastoma, congential malformation, facies, jaw keratocytes

39
Q

Xeroderma Pigmentosum

A

Many genes (XPA) - UV sensitivity, skin cancers at young ages

40
Q

What gene causes Multiple Endocrine Neoplasia Type 1?

A

MEN1

41
Q

What 3 things do we associated with MEN1? What else can we find?

A

3 P’s: Pituitary, Parathyroid, and Pancreas

Skin findings, hyperparathyroidism (very common), pituitary, gastro-entero-pancreatic tract tumors, carcinoid and adrenocortical tumors

42
Q

MEN4

A

Very rare, has MEN1 phenotype but CDKN1B gene

43
Q

What gene is associated with retinoblastoma?

A

RB1 (AD, but 80% de novo rate)

44
Q

What characteristics make us suspicious for hereditary RB?

A

Multifocal/bilateral lesions, mean age dx: 10m

45
Q

ATM gene is what kind of gene?

A

DNA repair gene

46
Q

Tuberous Sclerosis Complex (TSC) Genes

A

TSC1 & TSC2

47
Q

What finding do we see in TSC?

A

Skin finding, CNS tumors, seizures, renal disease, lung disease, cardiac tumors, retinal hamartomas

48
Q

What are the differences between germline and somatic testing/mutations?

A

Germline:
mutation in egg and sperm
inherited & passed down
in every cell
testing leukocytes

Somatic:
mutation after conception
not inherited or passed down
not in every cell
testing on tumor sample

49
Q

What is sensitivity?

A

Ability of test to correctly identify patients with disease

50
Q

What is specificity?

A

Ability of test to correctly identify patients without disease

51
Q

What is positive predictive value (PPV)?

A

Likelihood that a positive test will correctly detect the presence of disease

52
Q

What is negative predictive value (NPV)?

A

Likelihood that a negative test result with correctly detect the absence of disease

53
Q

MLH1 associated cancers

A

Colon, breast, endometrial, ovarian, renal, bladder, gastric, small bowel, pancreas, liver, prostate, brain, skin

Cancer Genetic Counseling (3 decks)

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