Cancer

Question 1

[Gen/Cancer/BRCA]

Cancers other than breast cancer associated with BRACA1/2? (3)

Answer 1

Ovarian
Pancreas (BRCA2>BRCA1)
Melanoma

Question 2

[Gen/Cancer/FAP]

Colon cancer risk (%) for familial adenomatous polyposis?

Answer 2

100%

Question 3

[Gen/Cancer/VHL]

Associated tumor/cyst with von Hippel-Lindau syndrome? (5)

Answer 3

1. Pheochromocytoma
2. Endolymphatic sac tumors
3. Cysts in the kidney/pancreas
4. Renal cell carcinoma
5. Cystadenomas and neuroendocrine tumors of the
   pancreas

Question 4

[Gen/Cancer/VHL]

Leading cause of mortality for von Hippel-Lindau syndrome?

Answer 4

Renal cell carcinoma

Question 5

[Gen/Cancer/VHL]

Age of onset for classical presentation of von Hippel-Lindau syndrome? (2)

Answer 5

1. Retinal angioma by 10 years
2. Cerebella hemangioblastoma in adolescence

Question 6

[Gen/Cancer/PTEN]

BRRS vs Cowden?

Macrocephaly, intellectual disability
Pigmented penile lesions, cafe au lait spots
Harmatomatous intestinal polyps, lipomas

Answer 6

Bannayan-Riley-Ruvalcaba syndrome
(PTEN tumor suppressor gene mutation)

Question 7

[Gen/Cancer/PTEN]

BRRS vs Cowden?

Multiple hamartomata of the skin, mucous membranes, breast, thyroid
GI polyps
Hyperkeratotic papillomas

Answer 7

Cowden syndrome
(PTEN tumor suppressor gene mutation)

Question 8

[Gen/Cancer/APC]

Which syndrome?

Adenomatous polyposis
Soft tissue tumors, extra teeth, osteomas,
Congenital hypertrophy of the renital pigment epithelium (CHRPE)

Answer 8

Gardner syndrome
(APC gene mutation)