Cancer Syndromes You Better Fucking Know

Question 1

Cancer Predisposition with mutation in RB

- Inheritance?

Answer 1

Retinoblastoma

Autosomal Dominant

Question 2

Cancer Predisposition with mutation in TP53

- Inheritance?

Answer 2

Li-Fraumeni Syndrome (lots of tumors)

Autosomal Dominant

Question 3

Cancer Predisposition with mutation in APC

- Inheritance?

Answer 3

Familial adenomatous Polyposis/Colon Cancer

Autosomal Dominant

Question 4

Cancer Predisposition with mutation in NF1, NF2

- Inheritance?

Answer 4

Neurofibromatosis

Autosomal Dominant

Question 5

Cancer Predisposition with mutation in BRCA1/2

- Inheritance?

Answer 5

Breast and Ovarian Cancer

Autosomal Dominant

Question 6

Cancer Predisposition with mutation in MEN1, RET

- Inheritance?

Answer 6

Multiple Endocrine Neoplasia 1 and 2
Thyroid Cancer

Autosomal Dominant

Question 7

Cancer Predisposition with mutation in MSH2, MLH1, MSH6

- Inheritance?

Answer 7

Hereditiary NONpolyposis colon cancer = LYNCH SYNDROME

Autosomal Dominant

Question 8

What are the autosomal Recessive Syndromes of Defective DNA repair to know?

Answer 8

FAX-B

• Fanconi Anemia
• Ataxia Telangeictasia
• Xeroderma Pigmantosum
• Bloom Sydrome

Question 9

What are 3 familial Cancers of Uncertain Inheritance?

Answer 9

Breast Cancer
Ovarian Cancer
Pancreatic Cancer

Question 10

p16INK4A mutation is linked to what cancer?

- inheritance?

Answer 10

• Melanoma

- Autosomal Dominant

Question 11

What diseases are associated with:

• CMYC
• NMYC
• LMYC

Answer 11

CMYC - Burkitt Lymphoma
NMYC - Neroblastoma
LMYC - Small cell carcinoma

Question 12

What a defect leading to overactive Cyclin D1 lead to?

Answer 12

Mantle Cell Carcinoma

Question 13

What does an inherited defect in p16/CDKN2A cause?

Answer 13

Familial Melanoma

Question 14

What does a defect in c-kit cause?

Answer 14

G.I. Stromal Tumors

Question 15

What does adefect in KRAS cause?

Answer 15

Pancreatic cancer

Colon cancer

Question 16

What does a defect in GTPase cause?

Answer 16

Neurofibromatosis 1

Question 17

What does a defect in BCR-ABL cause?

Answer 17

Chronic Myelogenous Leukemia (CML)

Question 18

What does a defect in EML4-ALK cause?

Answer 18

Adenocarcinoma of the lung

Question 19

What does a defect in BRAF cause?

Answer 19

• Melanoma

- Hairy cell leukemia

Question 20

What does a defect in CDK4 cause?

Answer 20

FAMM (familial atypical multiple mole melanoma)

Question 21

What does adefect in PTEN cause?

Answer 21

Aquired; endometrium Cowden syndrome (Hamartomas in the skin and mucus membranes)

Question 22

What does a defect in NFkB cause?

Answer 22

Secondary Lymphoma (reason for lymphoma resulting from chronic inflammation)

Question 23

What does a defect in E-Cadherin cause?

Answer 23

Gastric adenocarcinoma

Breast adenocarcinoma

Question 24

What does a defect in Bcl-2 cause?

Answer 24

B Cell follicular Lymphoma

Question 25

What is the most common acquired mutation in cancer?

Answer 25

p53 mutation

Question 26

What molecule is believed to be responsible for tumor cachexia?

Answer 26

TNF-alpha

Question 27

What does a defect in VHL cause?

Answer 27

Renal Cell Cancer
Pheochromocytomas
Hemangiomas of CNS