Genes

Question 1

PRSS1

Answer 1

Hereditary Pancreatitis (Trypsin hyperactivation)

Question 2

KRAS

Answer 2

pancreatic adenocarcinoma, NSC lung cancer

Question 3

PTEN

Answer 3

Colorectal cancer

Question 4

MUYTH

Answer 4

MutY homolog-associated polyposis:
Colonnic adenoma (~10 on Right), duodenal/breast/ovarian/bladder cancer

Question 5

APC

Answer 5

Familial adenomatous polyposis
Colonic adenomas (100-1000s), duodenal cancer, desmoid tumor, osteoma, dental abnormalities, congenital hypertrophy of pigemented retinal epithelium.

Question 6

STK11

Answer 6

Peutz-Jeghers
Colonic hamartomas, breast/ovarian/gastric/pancreatic/cervical/testicular cancer, mucocutaneous freckles

Question 7

SMAD4

Answer 7

Juvenile polyposis syndrome
Hamartoma of colon, gastric/pancreatic cancer, hereditary telangiectasia in brain/liver/lungs

Question 8

MLH1, MSH2, MSH6, PMS2

Answer 8

Lynch Syndrome
R colon adenomas, endometrial/ovarian/gastric/SB/urothelial/skin cancer

Question 9

MLH2, PMS2, APC

Answer 9

Turcot syndrome
Colon adenomas, medulloblastoma, glioblastoma

Question 10

PTEN

Answer 10

Cowden syndrome
Hamartoma, breast/uterus/thyroid cancer, macrocephaly, trichilemmomas, lipomas

Question 11

MEN1/MENIN

Answer 11

MEN1 (autosomal dominant)
Pituitary neoplasm
Parathyroid hyperpplasia
Pancreatic islet cell tumor

Question 12

RET

Answer 12

MEN2A or 2B (Both autosomal dominant)

Question 13

KRAS

Answer 13

Pancreatic adenocarcinoma