B/13

Question 1

What % of cancer patients have inherited mutations?

Answer 1

10%

Question 2

3 types of inherited cancers

Answer 2

• autosomal dominant
• autosomal recessive
• familiar cancers

Question 3

Which genes are usually affected in autosomal dominant cancer syndromes?

Answer 3

tumor suppressor genes

Question 4

How do people with autosomal dominant cancers develop neoplasms?

Answer 4

They only need 1 sporadic mutation since the other allele is silenced

Question 5

General features of autosomal dominant inherited cancer syndromes?

Answer 5

• tissue specific cancers
• more than 1 site is involved
• no general predisposition to cancer

Question 6

Example of genes affected by autosomal dominant inheritance? (3)

Answer 6

• Rb gene
• APC gene
• p53 gene

Question 7

Autosomal dominant inherited cancer caused by p53

Answer 7

Li-fraumeni syndrome

Question 8

What is li-fraumeni syndrome?

Answer 8

breast, brain, AL, bone, soft tissue cancer

Question 9

Which types of genes are most affected in autosomal recessive inherited cancers?

Answer 9

mostly DNA-repair sytem related genes

Question 10

Example of inherited cancer caused by nucleotide excision repair mutation

Answer 10

skin cancer (due to xeroderma pigmentosum)

Question 11

Example of inherited cancer caused by homologue recombination repair mutation

Answer 11

breast cancer

Question 12

What is a familiar cancer?

Answer 12

Incidence of cancer 2-3 times higher than others in a family

Question 13

What is the pattern of transmission in familiar cancer?

Answer 13

There is no specific pattern of transmission

Question 14

What is the most likely reason for familiar cancer?

Answer 14

Multifactorial inheritance : several genes with low penetrance

Question 15

Features of familiar cancer (3)

Answer 15

• onset in early life
• arising in two or more relatives
• multiple or bilateral tumors