Genes

Question 1

BRCA1

Answer 1

HBOC (AD)
Breast, Ovarian, Prostate, Pancreatic, Male breast

Question 2

BRCA2

Answer 2

HOBC (AD)

Breast, Prostate, Male breast, pancreatic, melanoma

Question 3

ATM

Answer 3

(AD)
Ataxia Telangiectasia (AR)
lymphoma , leukemia, in childhood
Adults: breast, ovarian, gastric, melanoma, leiomyomas, sarcomas
Carriers still have increased risk for breast cancer

Question 4

BARD1

Answer 4

(AD)
Breast (strong for triple negative)

Question 5

BRIP1

Answer 5

(AD)
Fanconi Anemia (AR)
Breast, Ovarian,

Question 6

CDH1

Answer 6

HDGCS (AD)
Gastric, Breast

Question 7

CHEK2

Answer 7

LYNCH (AD)
Breast, Colon

Question 8

PALB2

Answer 8

(AD)
Breast, ovarian, prostate, pancreatic, male breast

Question 9

MSH6

Answer 9

Lynch (AD)
CRC, endometrial, ovarian, breast, gastric, pancreas, bladder, biliary tract, urothelial, small bowel, prostate, brain, CNS

Question 10

PMS2

Answer 10

Lynch (AD) earliest onset
CRC, endometrial, ovarian, breast, gastric, pancreas, bladder, biliary tract, urothelial, small bowel, prostate, brain, CNS

Question 11

NF1

Answer 11

Neurofibromatosis Type 1 (AD)
Brain, breast, leukemia, gastrointestinal stromal tumors, paragangliomas, and pheochromocytomas

Question 12

PTEN

Answer 12

Cowden Syndrome (AD)
Breast, Thyroid, Kidney, Uterine/Endometrial, CRC, melanoma

Question 13

RAD51C

Answer 13

AD
Fanconi anemia (AD)
Breast, ovarian

Question 14

RAD51D

Answer 14

AD
Fanconi anemia
Breast, ovarian

Question 15

STK11

Answer 15

Peutz-Jeghers-Syndrome (AD)
Breast, CRC, Pancreatic, Stomach, ovarian, lung, small intestine, cervical, uterine, testicular

Question 16

TP53

Answer 16

Li-Fraumeni (AD)
Bones, Brain, Blood, Breast
Breast, CRC, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, brain, sarcoma, leukemia, lymphoma, Wilms

Question 17

MLH1

Answer 17

Lynch
CRC, Endometrial, Ovarian, renal/ureter, bladder, gastric, small bowel, pancreas, biliary tract, prostate, brain, skin

Question 18

MSH2

Answer 18

Lynch
CRC, Endometrial, Ovarian, renal/ureter, bladder, gastric, small bowel, pancreas, biliary tract, prostate, brain, skin

Question 19

EPCAM

Answer 19

Lynch
CRC, Endometrial, Ovarian, renal/ureter, bladder, gastric, small bowel, pancreas, biliary tract, prostate, brain, skin

Question 20

APC

Answer 20

Familial Adenomatous Polyposis
CRC, stomach, small intestine, pancreas, biliary tract, hepatoblastoma (kids), papillary thyroid cancer

Question 21

BAP1

Answer 21

Hereditary melanoma (AD)
Melanoma, renal, mesothelioma, ocular melanoma

Question 22

CDK4

Answer 22

Hereditary melanoma (AD)
melanoma

Question 23

CDKN2A

Answer 23

Hereditary melanoma (AD)
Melanoma, pancreatic, ocular melanoma

Question 24

MITF

Answer 24

Hereditary melanoma (AD)
melanoma , renal

Question 25

PTCH1

Answer 25

Gorlin Syndrome
Basal cell carcinoma, medulloblastoma, facies, jaw keratocysts, ovarian fibromas, cardiac fibromas

Question 26

SUFU

Answer 26

Gorlin Syndrome
Basal cell carcinoma, medulloblastoma, facies, jaw keratocysts, ovarian fibromas, cardiac fibromas

Question 27

MEN1

Answer 27

Multiple Endocrine Neoplasia Type 1
Parathyroid, Pancreas, Pituitary

Question 28

RET

Answer 28

Multiple Endocrine Neoplasia Type 2
Medullary Thyroid cancer, pheochromocytomas

Question 29

VHL

Answer 29

Von Hippel Lindau (AD)
Kidney, Pancreatic, Brain, spinal cord, retina

Question 30

WT1

Answer 30

Fraiser Syndrome
Denys- Drash syndrome

Denys-Drash: Wilms tumor

Question 31

BLM

Answer 31

Bloom’s syndrome (AR)
Wilms tumor; Small and large intestine carcinomas, skin carcinomas, upper GI and respiratory tract carcinomas; lymphomas; leukemia

Question 32

RB1

Answer 32

Hereditary retinoblastoma
High rate de novo
(AD)
retinoblastoma , osteosarcomas, soft tissue sarcomas, melanomas

Question 33

TSC1, TSC2

Answer 33

Tuberous Sclerosis Complex (AD)
KIDS: CNS tumors, Kidney cancer