Inherited breast cancer

Question 1

% of breast cancers that are inherited

Answer 1

5-10%

Question 2

BRCA1 location

Answer 2

17q

Question 3

BRCA2 location

Answer 3

13q

Question 4

Other cancers that inherited breast cancer is linked with

Answer 4

Ovarian, prostate and pancreatic

Question 5

Inherited breast cancer tends to present before what age

Answer 5

50 years

Question 6

Inheritance pattern of inherited breast cancer

Answer 6

Autosomal dominant

Question 7

Bilateral or unilateral breast cancer - which is more likely to be inherited?

Answer 7

Bilateral

Question 8

BRCA - large or small genes?

Answer 8

Large

Question 9

BRCA proteins are involved in

Answer 9

Repair of double strand breaks

Question 10

Mutation types in BRCA1/2

Answer 10

Small indels and substitutions in both. BRCA1 - also have large deletions and duplications. Tend to result in truncated protein

Question 11

Increased risk of male breast cancer if you have a mutation in

Answer 11

BRCA2

Question 12

Population risk of breast cancer

Answer 12

12%

Question 13

Population risk of ovarian cancer

Answer 13

1.3%

Question 14

BRCA1 mutation increases breast cancer risk to

Answer 14

72%

Question 15

BRCA2 mutation increases breast cancer risk to

Answer 15

69%

Question 16

BRCA1 mutation increases ovarian cancer risk to

Answer 16

44%

Question 17

BRCA2 mutation increases ovarian cancer risk to

Answer 17

17%

Question 18

Does everyone with a BRCA1 or 2 mutation get breast/ovarian cancer?

Answer 18

No - incomplete penetrance

Question 19

Where do inherited breast cancer referrals come from?

Answer 19

Tend to be clinical Genetics, will have had counselling

Question 20

What clinical information will be on referrals for inherited breast cancer?

Answer 20

Family history, mutation may be known or unknown

Question 21

Testing strategy for inherited breast cancer if have a family history and the mutation is known?

Answer 21

Predictive testing - Sanger/MLPA depending on the mutation

Question 22

Testing strategy for inherited breast cancer if have a family history but the mutation is unknown?

Answer 22

NGS screen (MLPA if nothing found)

Question 23

Patients with Li Fraumeni syndrome have mutations in which gene?

Answer 23

TP53

Question 24

What type of tumours are most common in individuals with Li Fraumeni syndrome?

Answer 24

Breast, sarcomas, osteosarcoma (bone cancer)

Question 25

Patient with Cowdens syndrome have mutations in which gene?

Answer 25

PTEN

Question 26

Inheritance pattern of Li Fraumeni syndrome

Answer 26

Autosomal dominant

Question 27

Does Li Fraumeni affect the young or old?

Answer 27

Children and young adults

Question 28

Inheritance pattern of Cowdens syndrome

Answer 28

Autosomal dominant

Question 29

What type of tumours are most common in individuals with Cowdens syndrome?

Answer 29

Breast, thyroid, uterus (endometrium)

Question 30

Prophylactic mastectomy removes …% risk of breast cancer in individuals with BRCA1/2 mutation

Answer 30

90%

Question 31

Prophylactic salpingo-oopherctomy leaves a residual risk of ovarian cancer of …% in individuals with BRCA1/2 mutation

Answer 31

1-4%