Hereditary Breast and Ovarian Cancer Syndrome

Question 1

BRCA 1 associated with what % of epithelial ovarian and breast cancers

Answer 1

15%

Question 2

BRCA 2 associated with what % of epithelial ovarian and breast cancers

Answer 2

5%

Question 3

BRCA genes are associated with what fuck up

Answer 3

tumor suppression genes, so when they are messed up, or when a defect allele is inherited, risk of cancer increases

Question 4

risk of breast cancer if BRCA 1/2 positive by age 70 is

Answer 4

70%

and 10 year risk is approximately 10%

Question 5

ovarian cancer risk of someone with BRCA 1 vs 2 is

Answer 5

BRCA 1 : 40%

BRCA 2 : 20%

Question 6

BRCA + also increases your risk for getting these other cancers

Answer 6

pancreatic, prostate, uterine, melanoma

Question 7

Pts should get genetic counseling if

Answer 7

• personal or family history (1st or 2nd degree relative) of breast or ovarian cancer
• high risk groups (ashkenazi jews, French Canadians, incelanders

Question 8

Genetic counseling should address:

Answer 8

1) detailed pedigree and risk assessment
2) informed consent should include a discussion on the ethical issues of disclosure/non-disclosured
3) Pre and post test cousneling
4) cost of testing (and degree of insurance coverage an idfentified risk can cause)

Question 9

Those with the following should get further genetic counseling

Answer 9

• personal history of ovarian cacner
• breast cancer before 45 yo
• breast cancer any cage, and being Ashkenazi Jew
• positive family history (with increasing numbers and increasing degrees of closeness)

Question 10

Different types of BRCA testing include:

Answer 10

1) single site testing (relatives of an individual whose specific genetic error is known
2) targeted multisite testing (members of high risk groups where a specific allelic error is unknown
3) BRCA rearrangement testing (look at entire BRCA gene, more expensive

Question 11

Treatment options for BRCA 1 or 2 postiive

Answer 11

1) Screen ages 25-29 with 6-12 monthly clinical breast exam and MRI
2) after age 30, alternate mammagram and MRI every 6 months, in addition to clinical breast exam

Question 12

risk reducing BSO

Answer 12

• most effective management option is BSO
• recommended 35-40yo for BRCA 1
• recommended 40-45 for BRCA 2
• routine CA125 and US screening is only okay 30-35 as an interim measure because it will have too high false positive
• BS is not recommended for high risk women (though okay in lower risk women, and should have BO as soon as possible.

Question 13

risk reducing bilateral mastectomy

Answer 13

• risk of nipple sparing unknown currently

Question 14

risk reducing medications

Answer 14

• OCPs
• tamoxifen (reduce breast cancer risk in BRCA 2, but not BRCA 1
• estrogen for those with BSO reduces the negative effects of BSO (bones, cardiovascular) but does not reduce the effectiveness

Question 15

Fertility in BRCA+ people is impacted by

Answer 15

• ppx BSO
• baseline early onset menopause associated
• decreased ovarian reserve
• hx of chemo

therefore oocyte or embryo cyropreservation should be discussed

Question 16

Surgical technique of BSO for at risk pts includes

Answer 16

• pelvic washings
• thorough exam on the peritoneum throughout abdominal and pelvic cavities
• complete removal of fallopian and ovarian tissue
• serial sectioning of the pathological specimen
• option for concomitant Hysterectomy should be considered on an individual basis.