Cancer Genes

Question 1

STK11 Genetics

Answer 1

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

Question 2

STK11 Condition

Answer 2

Peutz-Jeghers Syndrome

Question 3

Peutz-Jeghers Syndrome

Answer 3

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

Question 4

STK11 Cancer risks

Answer 4

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%

Question 5

Peutz-Jeghers Syndrome Criteria

Answer 5

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

Question 6

CHEK2 associated condition

Answer 6

Li-Fraumeni Syndrome 2

Question 7

CHEK2 cancer risks

Answer 7

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

Question 8

CHEK2 Genetics

Answer 8

Truncating is more severe
AD

Question 9

CHEK2 mutations are not associated with what type of colon cancer

Answer 9

polyposis

Question 10

What risk estimation tool can you use for CHEK2

Answer 10

CanRisk

Question 11

RAD51D cancer risks

Answer 11

Breast 17-30%
Ovarian 10-20%

Question 12

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

Answer 12

ER - and triple -

Question 13

RAD51C cancer risks

Answer 13

Breast 17-30%
Ovarian 10-15%

Question 14

BRIP1 cancer risk

Answer 14

Ovarian 5-15%

Question 15

Biallelic mutations in BRIP1 lead to what condition

Answer 15

Fanconi Anemia

Question 16

ATM cancer risk

Answer 16

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

Question 17

ATM biallelic mutation association with what condition

Answer 17

Ataxia telangiectasia

Question 18

PTEN Conditions

Answer 18

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

Question 19

Cowden Syndrome

Answer 19

macrocephaly
mucocutaneous stigmata
cancer risks
ID
ASD

Question 20

Cowden Syndrome Cancers

Answer 20

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

Question 21

PALB2 Cancers

Answer 21

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

Question 22

PALB2 associated condition

Answer 22

Fanconi Anemia

Question 23

NTHL1 genetics

Answer 23

AR

Question 24

NTHL1 Cancers

Answer 24

Colon
Breast
Others
Polyps

Question 25

BARD1 Cancers

Answer 25

Breast

Question 26

BARD1 other name

Answer 26

BRCA1-Associated Ring Domain-1