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Endo/Repro Wk 6 > BRCA Genetics > Flashcards

Flashcards in BRCA Genetics Deck (19)
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1
Q

What % of breast cancers are due to germline mutations? ie familial defects

A

5-10%

90% are therefore sporatic

2
Q

Which layer luminal/myoepithelial is ER+

A

luminal

3
Q

BRCA inheritance pattern

A

autosomal dominant

4
Q

BRCA genes are necessary for repairing what type of defect

A

homologus recombination

dsDNA break repair

5
Q

dsDNA break repair is done by what genes

A

BRCA

6
Q

Defect in BRCA gene results

A

not able to repair double stranded DNA

7
Q

BRCA1 job

A

create single-stranded DNA end and recruits repair machinery

8
Q

BRCA2 job

A

recruits Rad51

complex promotes strand invasion

9
Q

Breast cancer resulting from BRCA1 mutations

A

resemble basal layers
usually triple negative
ER-, PR-, ERBB2- ERBB2 = Her2

10
Q

BRCA1 and 2 account for what % of familial breast ca

A

40%

the rest are rare and only found in small populations

11
Q

ER+ confers better/worse prognosis

A

better

12
Q

Normal ER signaling

A

steroid receptor
amphiregulin release
proliferation of adjacent epithelial cells

13
Q

Cancerous ER signaling

A

direct proliferation of ER+ cells
FOXA1 overexpression binds closed chromatin and opens it up
Cyclin D1 increased in expression
unopposed G1->S transition

14
Q

Aromatase inhibitor MOA

A

block estrogen synthesis in non-ovarian tissues

15
Q

ERBB2 =

A

Her2/Neu

16
Q

Trastuzumab
MOA
TU

A

MOA: mab against ERBB2/Her2/Neu
TU: ERBB2+ breast ca

17
Q

What is ERBB2?

A

EGFR family of receptors

when amplified, no ligand is needed to create proliferation signal

18
Q

Lapatinib
MOA
TU

A

MOA: inhibits TK of ERBB2/Her2/Neu
TU: Her2+ breast ca

19
Q

Oncotype Dx

A

assesses risk of recurrence/mets

based on