Genetic Implications of Breast Cancer Flashcards
Most significant risk factor breast cancer other than gender.
Age
Increase or decrease breast cancer risk? early menarche
increase
Increase or decrease breast cancer risk? early menopause
decrease
Increase or decrease breast cancer risk? early pregnancy (<20)
decrease
Increase or decrease breast cancer risk? lactation
decrease
Increase or decrease breast cancer risk? HRT
increase
Increase or decrease breast cancer risk? high estrogen
increase
Dominant breast cancer genes
BRCA 1 and BRCA 2
Li fraumeni syndrome is caused by what gene abnormality?
TP53
Cowden syndrome is caused by what gene abnormality?
PTEN
What are FGFR2, TNRC9 and MAP3K1
dominant alleles in SNPs associated with modifying risk in breast cancer
T/F FGFR is a risk modifier in BRCA1 and 2
F –> only in BRCA2
BRCA1
tumor suppressor on chr 17 –> autosomal dominant –> genomic stability, homologous DNA repair
Which group has a high degree of founder mutations in BRCA1/2?
1/40 Ashkenazi jews
3 Ashkenazi founder mutations in BRCA1/2
185delAG, 5382insC, 6174delT
T/F prophylactic salpingo-oophrectomy reduces risk of breast and ovarian cancer
T
BRCA1 vs BRCA2 estrogen receptor
BRCA1 = 85% ER-
Which preop chemotherapy seemed to have impact on early stage breast cancer in BRCA1 carriers?
cisplatin
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
T/F Olaparib can result in BRCA tumor shrinkage
T –> proof of concept
