Answers
1. Most common -Lynch
hereditary cancer -Li-Fraumeni
syndromes related -Cowden Syndrome
to women's cancer -Peutz-Jeghers syndrome
(793) -hereditry dittuse gastric cancer
L-LF-C-PJ-G
2. What is included - Family hx
in hereditary can- - Personal hx
cer risk assessment? (include pathology, imaging reports, evaluation of other risk factors for
(793) cancer)
3. Next step if heredi- Referral
tary cancer risk as- - specialist in cancer genetics
sessment if positive? - HCP with expertise in genetics
(793)
- expanded hx taking, risk assessment, counseling, education, enhanced
genetic testing, tailored cancer screening, risk reduction.
4. Benefits of multi- - Increases likelihood of finding variants of unknown significance. Allows for
gene sequencing testing for pathogenic and likely pathogenic variants of unknown signifi-
technology (793) cance.
- Multigene testing is recommended by ACOG.
5. Which germline mu- BRCA1 and BRCA2
tations account for
most cases of hered-
itary breast and
ovarian cancer syn-
drome? (182)
6.
, Who should receive - All patients with ovarian epithelial cancer including fallopian and primary
genetic counseling? peritoneal cancer.
(182) - individuals with personal or family history of breast/ovarian cancer.
7. Who should be - Women with BRCA mutations.
offered prophylac- - Other actionable deleterious mutations that predispose people to breast
tic bilateral mas- or ovarian cancer.
tectomy or bi-
lateral salpingo-oo-
pherectomy? (182)
8. What age should 35-40 years old
BRCA 1 carri- Earlier than BRCA 2. Higher lifetime r/o ovarian cancer
ers be recommend-
ed prophylactic bi-
lateral salpingo-oo-
pherectomy? (182)
9. What age should 40-45 years old
BRCA 2 carri- Later onset of ovarian cancer likely in BRCA 2 vs 1.
ers be recommend-
ed prophylactic bi-
lateral salpingo-oo-
pherectomy? (182)
10. What are the 2 main 1. BRCA mutation testing
genetic testing op- 2. Multigene panel testing (includes BRCA)
tions for breast and - use when suspicious of inherited cancer syndrome.
ovarian cancer syn-
drome? (182)
11. T/F: TVUS and serum FALSE - this is NOT recommended.
CA 125 levels should TVUS and CA125 levels are only reasonable in short-term surveillance in
, be used for rou- women at high risk of ovarian cancer at 30-35 years of age until they choose
tine ovarian cancer to pursue a bilateral salpingo-oopherectomy.
screening in those
with BRCA muta-
tions or with person-
al/family history of
ovarian cancer. (182)
12. Only proven inter- Risk-reducing bilateral salpingo-oopherectomy
vention to reduce
ovarian cancer-spe-
cific mortality (182)
13. What is recommend- - Clinical breast exam q6-12 months
ed for breast can- - Annual radiographic screening (MRI w/ contrast)
cer surveillance in
25-29 year-olds with
known BRCA? (182)
14. For women with - Annual MRI with contrast
known BRCA muta- - Annual mammography
tions over 30, what (Alternate q 6 months)
breast cancer sur-
veillance is recom-
mended? (182)
15. T/F: Those with a TRUE
positive personal or
family history for
breast/ovarian can-
cer should be man-
aged based on their
history alone, even is