Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Cancer Genetic Counseling > Hereditary Cancer Syndromes > Flashcards

Hereditary Cancer Syndromes Flashcards

(53 cards)

Start Studying
1
Q

What genes are associated with HBOC?

A

BRCA1/2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

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

A

PARP inhibitors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What cancer types are associated with mutations in ATM?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What cancer is associated with mutations in BARD1?

A

Female breast cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What cancers are associated with BRIP1 mutations?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

CDH1

A

Breast & gastric cancer (Hereditary Diffuse Gastric Cancer Syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

CHEK2

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

PALB2

A

female & male breast, pancreatic, ovarian, prostate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

MSH6 & PMS2

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

NF1

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

PTEN

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

RAD51C & RAD51D

A

female breast, ovarian (AR = Fanconi Anemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

STK11

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Tumor Suppressor or Oncogene - TP53

A

Tumor suppressor “guardian of the genome”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What genes make up Lynch Syndrome?

A

MLH1, MSH6, PMS2, EPCAM, MSH2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which Lynch Syndrome genes are Mismatch Repair Proteins?

A

MLH1, MSH2, MSH6, and PMS2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

EPCAM - epithelial cell adhesions molecule protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

Study These Flashcards
A

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

23
Q

Which Hereditary Polyposis Syndromes are adenomatous?

Study These Flashcards
A

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

24
Q

Which Hereditary Polyposis Syndromes are hamartomatous?

Study These Flashcards
A

Peutz-Jeghers Syndrome & Familial Juvenile Polyposis

25
Which gene is associated with classic FAP?
APC (tumor suppressor)
26
Which gene is associated with attenuated FAP?
APC (tumor suppressor)
27
Which gene is associated with Peutz-Jeghers Syndrome?
STK11
28
What gene is associated with Von Hippel-Lindau Syndrome?
VHL
29
What cancer risks are associated with VHL?
Hemangioblastomas, RCC, blood vessel rich tumors of brain, spinal cord, and retina
30
What does WAGR stand for?
Wilms tumor Aniridia (absence of iris) Genitourinary malformation R (mental retardation) .. that feels icky
31
Fraisier syndrome
neuropathy due to glomerulosclerosis (WT1)
32
Denys-Drash syndrome
nephrotic syndrome from mesangial sclerosis
33
Beckwith-Wiedman syndrome
10% risk for Wilms tumor
34
What genes are associated with melanoma?
CDKN2A, CDK4, BAP1, MITF
35
CDKN2A
tumor suppressor - melanoma, pancreatic, neural tumors
36
BAP1
tumor suppressor - dermal lesions, melanoma, eye (uveal) melanoma, renal, mesothelioma
37
MITF
transcription factor - melanoma, renal
38
Nevoid BCC
Gorlin Syndrome - PTCH1, SUFU BCC, medulloblastoma, congential malformation, facies, jaw keratocytes
39
Xeroderma Pigmentosum
Many genes (XPA) - UV sensitivity, skin cancers at young ages
40
What gene causes Multiple Endocrine Neoplasia Type 1?
MEN1
41
What 3 things do we associated with MEN1? What else can we find?
3 P's: Pituitary, Parathyroid, and Pancreas Skin findings, hyperparathyroidism (very common), pituitary, gastro-entero-pancreatic tract tumors, carcinoid and adrenocortical tumors
42
MEN4
Very rare, has MEN1 phenotype but CDKN1B gene
43
What gene is associated with retinoblastoma?
RB1 (AD, but 80% de novo rate)
44
What characteristics make us suspicious for hereditary RB?
Multifocal/bilateral lesions, mean age dx: 10m
45
ATM gene is what kind of gene?
DNA repair gene
46
Tuberous Sclerosis Complex (TSC) Genes
TSC1 & TSC2
47
What finding do we see in TSC?
Skin finding, CNS tumors, seizures, renal disease, lung disease, cardiac tumors, retinal hamartomas
48
What are the differences between germline and somatic testing/mutations?
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
What is sensitivity?
Ability of test to correctly identify patients with disease
50
What is specificity?
Ability of test to correctly identify patients without disease
51
What is positive predictive value (PPV)?
Likelihood that a positive test will correctly detect the presence of disease
52
What is negative predictive value (NPV)?
Likelihood that a negative test result with correctly detect the absence of disease
53
MLH1 associated cancers
Colon, breast, endometrial, ovarian, renal, bladder, gastric, small bowel, pancreas, liver, prostate, brain, skin

Cancer Genetic Counseling (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions