Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Med Gen II > Cancer Genes > Flashcards

Cancer Genes Flashcards

1
Q

STK11 Genetics

A

AD
19p
Premature truncating variants thought to predispose to more severe phenotype

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

STK11 Condition

A

Peutz-Jeghers Syndrome

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

Peutz-Jeghers Syndrome

A

mucocutaneous pigmentation (lip freckling)
Hamartomatous polyps
Intussusception (intestine folds)

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

STK11 Cancer risks

A

Breast 32-54%
Non-epithelial ovarian >10% - sex cord tumors with annular tubules (SCTAT)
Pancreatic 11-36%
Colorectal 39%
Stomach 29%
Small intestine 13%
Cervical >10%
Uterine 9%
Lung 7-17%
Testes 9%

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

Peutz-Jeghers Syndrome Criteria

A

two or more PJS type hamartomatous polyps
Mucocutaneous pigmentation
Family history of PJS

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

CHEK2 associated condition

A

Li-Fraumeni Syndrome 2

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

CHEK2 cancer risks

A

Breast 20-40% (specifically ER +)
Colorectal5-10%
Prostate
Brain
Osteosarcoma

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

CHEK2 Genetics

A

Truncating is more severe
AD

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

CHEK2 mutations are not associated with what type of colon cancer

A

polyposis

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

What risk estimation tool can you use for CHEK2

A

CanRisk

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

RAD51D cancer risks

A

Breast 17-30%
Ovarian 10-20%

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

RAD51D mutations more likely to be associated with what type of breast cancer

A

ER - and triple -

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

RAD51C cancer risks

A

Breast 17-30%
Ovarian 10-15%

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

BRIP1 cancer risk

A

Ovarian 5-15%

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

Biallelic mutations in BRIP1 lead to what condition

A

Fanconi Anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

ATM cancer risk

A

Breast 20-30%
Ovarian 2-3%
Pancreatic 5-10%
Prostate
Gastric, colorectal, melanoma

17
Q

ATM biallelic mutation association with what condition

A

Ataxia telangiectasia

18
Q

PTEN Conditions

A

Cowden Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
PTEN-Related Proteus Syndrome
PTEN-Related Proteus-Like Syndrome

19
Q

Cowden Syndrome

A

macrocephaly
mucocutaneous stigmata
cancer risks
ID
ASD

20
Q

Cowden Syndrome Cancers

A

Breast 85%
Thyroid (follicular) 35%
Endometrial 28%
GI neoplasia 9%
Renal cell carcinoma 35%
Cutaneous melanoma 6%
Brain, vascular, cerebellar

21
Q

PALB2 Cancers

A

Breast 41-60%
Ovarian 3-5%
Pancreatic 2-5%

22
Q

PALB2 associated condition

A

Fanconi Anemia

23
Q

NTHL1 genetics

A

AR

24
Q

NTHL1 Cancers

A

Colon
Breast
Others
Polyps

25
Q

BARD1 Cancers

A

Breast

26
Q

BARD1 other name

A

BRCA1-Associated Ring Domain-1

27
Q
A

Med Gen II (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions