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Flashcards in Genetic Implications of Breast Cancer Deck (20):
1

Most significant risk factor breast cancer other than gender.

Age

2

Increase or decrease breast cancer risk? early menarche

increase

3

Increase or decrease breast cancer risk? early menopause

decrease

4

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

decrease

5

Increase or decrease breast cancer risk? lactation

decrease

6

Increase or decrease breast cancer risk? HRT

increase

7

Increase or decrease breast cancer risk? high estrogen

increase

8

Dominant breast cancer genes

BRCA 1 and BRCA 2

9

Li fraumeni syndrome is caused by what gene abnormality?

TP53

10

Cowden syndrome is caused by what gene abnormality?

PTEN

11

What are FGFR2, TNRC9 and MAP3K1

dominant alleles in SNPs associated with modifying risk in breast cancer

12

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

F --> only in BRCA2

13

BRCA1

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

14

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

1/40 Ashkenazi jews

15

3 Ashkenazi founder mutations in BRCA1/2

185delAG, 5382insC, 6174delT

16

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

T

17

BRCA1 vs BRCA2 estrogen receptor

BRCA1 = 85% ER-

18

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

cisplatin

19

PARP inhibition

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

20

T/F Olaparib can result in BRCA tumor shrinkage

T --> proof of concept