breast hereditary

Question 1

Hereditary breast and Ovarian Cancer cluster (HBOC) includes

Answer 1

triple negative tumors (BRCA1)

(ashkenazi jewish)

Question 2

“rule” for indication of genetic consults

Answer 2

3-2-1-

3 famly members with breast CA regardless of age

2 breast CA ,50y

1 family member with ovarian CA

Question 4

Li fraumeniasyndrome =

Answer 4

TP53 gene

breast brain, luekmia, sarcoma

Question 4

inheritance pattern for most breast CA (heriditary)

Answer 4

AD

Question 5

best family member to screen

Answer 5

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

Question 6

HBOC mutations and risks

Answer 6

BRCA1 and 2

45-85% lifetime risk for breast cancer

15-45% ovarian risk

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

Question 7

BRCA 1 + 2 role

Answer 7

tumor supressor genes involved in DS DNA strand repair

lead to accumulation of dmage if mutated

Question 8

Cowden sydrome =

Answer 8

PTEN gene

breast, thyroid, uterine CA