Genetic Implications of Breast Cancer

Question 1

Most significant risk factor breast cancer other than gender.

Answer 1

Age

Question 2

Increase or decrease breast cancer risk? early menarche

Answer 2

increase

Question 3

Increase or decrease breast cancer risk? early menopause

Answer 3

decrease

Question 4

Increase or decrease breast cancer risk? early pregnancy (<20)

Answer 4

decrease

Question 5

Increase or decrease breast cancer risk? lactation

Answer 5

decrease

Question 6

Increase or decrease breast cancer risk? HRT

Answer 6

increase

Question 7

Increase or decrease breast cancer risk? high estrogen

Answer 7

increase

Question 8

Dominant breast cancer genes

Answer 8

BRCA 1 and BRCA 2

Question 9

Li fraumeni syndrome is caused by what gene abnormality?

Answer 9

TP53

Question 10

Cowden syndrome is caused by what gene abnormality?

Answer 10

PTEN

Question 11

What are FGFR2, TNRC9 and MAP3K1

Answer 11

dominant alleles in SNPs associated with modifying risk in breast cancer

Question 12

T/F FGFR is a risk modifier in BRCA1 and 2

Answer 12

F –> only in BRCA2

Question 13

BRCA1

Answer 13

tumor suppressor on chr 17 –> autosomal dominant –> genomic stability, homologous DNA repair

Question 14

Which group has a high degree of founder mutations in BRCA1/2?

Answer 14

1/40 Ashkenazi jews

Question 15

3 Ashkenazi founder mutations in BRCA1/2

Answer 15

185delAG, 5382insC, 6174delT

Question 16

T/F prophylactic salpingo-oophrectomy reduces risk of breast and ovarian cancer

Answer 16

T

Question 17

BRCA1 vs BRCA2 estrogen receptor

Answer 17

BRCA1 = 85% ER-

Question 18

Which preop chemotherapy seemed to have impact on early stage breast cancer in BRCA1 carriers?

Answer 18

cisplatin

Question 19

PARP inhibition

Answer 19

PARP repairs ssbreaks and BRCA1/2 repair dsbreaks resulting in error prone repair when they are malfunctioning –> using a parp inhibitor results in synthetic lethality because both kinds of cell repair processes are nonfunctional

Question 20

T/F Olaparib can result in BRCA tumor shrinkage

Answer 20

T –> proof of concept