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Flashcards in breast hereditary Deck (8):
1

Hereditary breast and Ovarian Cancer cluster (HBOC) includes

triple negative tumors (BRCA1)

(ashkenazi jewish)

2

"rule" for indication of genetic consults

3-2-1-

3 famly members with breast CA regardless of age

2 breast CA ,50y

1 family member with ovarian CA

4

Li fraumeniasyndrome = 

TP53 gene

breast brain, luekmia, sarcoma

4

inheritance pattern for most breast CA (heriditary)

AD

5

best family member to screen

screen family members that have cancer for mutations to seek in ohter family 

6

HBOC mutations and risks

BRCA1 and 2

45-85% lifetime risk for breast cancer

15-45% ovarian risk

(also prostate, male breast, pancreatic, melanoma, ocular melanoma)

7

BRCA 1 + 2 role

tumor supressor genes involved in DS DNA strand repair 

lead to accumulation of dmage if mutated

8

Cowden sydrome = 

PTEN gene

breast, thyroid, uterine CA