Genetic Implications of Breast Cancer Flashcards

1
Q

Most significant risk factor breast cancer other than gender.

A

Age

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2
Q

Increase or decrease breast cancer risk? early menarche

A

increase

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3
Q

Increase or decrease breast cancer risk? early menopause

A

decrease

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4
Q

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

A

decrease

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5
Q

Increase or decrease breast cancer risk? lactation

A

decrease

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6
Q

Increase or decrease breast cancer risk? HRT

A

increase

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7
Q

Increase or decrease breast cancer risk? high estrogen

A

increase

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8
Q

Dominant breast cancer genes

A

BRCA 1 and BRCA 2

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9
Q

Li fraumeni syndrome is caused by what gene abnormality?

A

TP53

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10
Q

Cowden syndrome is caused by what gene abnormality?

A

PTEN

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11
Q

What are FGFR2, TNRC9 and MAP3K1

A

dominant alleles in SNPs associated with modifying risk in breast cancer

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12
Q

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

A

F –> only in BRCA2

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13
Q

BRCA1

A

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

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14
Q

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

A

1/40 Ashkenazi jews

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15
Q

3 Ashkenazi founder mutations in BRCA1/2

A

185delAG, 5382insC, 6174delT

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16
Q

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

A

T

17
Q

BRCA1 vs BRCA2 estrogen receptor

A

BRCA1 = 85% ER-

18
Q

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

A

cisplatin

19
Q

PARP inhibition

A

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
Q

T/F Olaparib can result in BRCA tumor shrinkage

A

T –> proof of concept