L7 - Hereditary aspects of cancer

Question 1

Risk factors of developing breast cancer

Answer 1

• BCRA1/22 mutation
• CHEK2 mutation
• SNP’s
• Lifestyle factors
• ATM
• PAIPB2

Question 2

Criteria for when you get genetic testing for breast cancer

Answer 2

• BRC < 40 years
• Bilateral BRC or multiple tumors in 1 breast with 1 tumor < 50 years
• 1st grade male with BRC, because then your risk of BRCA1/2 mutation is 10%
• BRC < 50 years and prostate cancer < 60 years in the same branch of family
• BRC < 50 years and 1 or more 1st degree with BRC < 50 years
• BRC and 2 or more 1st and/or 2nd degrees with BRC, of which at least 1 < 50 years
• Ovarian cancer irrespective of age, because highly associated with BRCA1/2 mutations

Question 3

APC gene

Answer 3

tumor suppressor gene

All adenoma’s have mutations in APC gene

Question 4

What mutations are needed to turn a adenoma into a tumor?

Answer 4

KRAS and TP53

Question 5

Knudsons theory

Answer 5

A child gets one normal gene and one mutated gene –> it needs only one extra hit to develop retinoblastma

Question 6

MUTYH mutation

Answer 6

colorectal cancer (recessive, so you only develop cancer if you have 2 mutated genes)

Question 7

TP53

Answer 7

Li fraumeni syndrome –> all kinds of rumors, tumors ad childhood

Question 8

PTEN

Answer 8

cownden syndrome (large hoofdomtrek and papula’s on the nose)

Question 9

BRAF gene mutation

Answer 9

Skin tumors

Question 10

MMR

Answer 10

colon cancer

Question 11

Brain tumors caused by:

Answer 11

P53 mutation

Question 12

STK11

Answer 12

Peutz jeghers syndrome

Question 13

NF1

Answer 13

Neurofibromatose 1

Question 14

CDKN2A mutation

Answer 14

melanoma’s in families

Question 15

When do you think of inheritable cancer?

Answer 15

• When a patient is young and has cancer

- when there are multiple cancers in patient/family

Question 16

Genes for colon cancer

Answer 16

MMR, APC, MUTYH