Breast and Ovarian cancer syndromes

Question 1

Do these breast changes increase risk? Yes/no/slightly/moderately?

Fibroadenoma

Answer 1

no

Question 2

Do these breast changes increase risk? Yes/no/slightly/moderately?

Florid adenoma

Answer 2

slightly

Question 3

Do these breast changes increase risk? Yes/no/slightly/moderately?

Epithelial hyperplasia

Answer 3

no

Question 4

Do these breast changes increase

Atypical lobular hyperplasia

Answer 4

moderately

Question 5

Do these breast changes increase risk? Yes/no/slightly/moderately?

LCIS

Answer 5

yes

Question 6

Do these breast changes increase risk? Yes/no/slightly/moderately?

DCIS

Answer 6

yes

Question 7

DCIS – invasive or non-invasive?

Answer 7

non-invasive

Question 8

DCIS – can u get radiation? Lumpectomy?

Answer 8

yes, yes

Question 9

DCIS – cancer risk with family hx? Ca risk if left untreated?

Answer 9

Up to 40% if fam hx, 30% if untreated

Question 10

Most common cancer lesion name.

Answer 10

IDC

Question 11

Woman with LCIS vs DCIS – which one is more likely to lead to cancer in the same area as LCIS/DCIS biopsy?

Answer 11

DCIS

Question 12

LCIS – what is new br cancer risk after this finding? Is LCIS considered “Affected” in pedigree?

Answer 12

25-30%; no (?)

Question 13

Gail model – what is cutoff in 5-year risk of br ca to be eligible for chemoprevention?

Answer 13

1.7%

Question 14

Jewish rate of BRCA mutation

Answer 14

1/40

Question 15

Which gene, BRCA1 or BRCA2 is predominantly triple negative?

Answer 15

BRCA1

Question 16

PARP treatment for BRCA-related cancer targets which function of cell?

Answer 16

base excision repair

Question 17

A woman has BRCA2 and does not get PGD. Her child inherits a BRCA2 mutation from her, and a PALB2 mutation from dad – does the child’s risk of cancer differ from the mom’s?

Answer 17

yes, they have Fanconi Anemia, and thus increased risk of Leukemia, other blood-based or solid cancers, and also short stature/developmental abnormalities

Question 18

A jewish woman has a BRCA1 mutation. Her sister comes in. What do youtest the sister for?

Answer 18

All three common Jewish BRCA mutations

Question 19

the 5 Li-Fraumeni tumors

Answer 19

Breast, SBLA (sarcoma, brain, leukemia, childhood adrenocortical [ACC])

Question 20

Oophorectomy lowers ov ca risk by how much?

Answer 20

80-90%

Question 21

Cowden – most common type of thyroid cancer associated?

Answer 21

Follicular, (almost never medullary)

Question 22

L’hermite duclos – what is it, and is it associated with any cancer syndromes?

Answer 22

gangliocytoma, Cowden syndrome

rare, presents in 30-40s, can present as hydrocephalus

Question 23

Which of these is not a minor criterion for Cowden?

a. Goiter
b. GI ganglioneuroma
c. Vascular anomalies in brain
d. Colon cancer

Answer 23

trick question, sucker! All are minor criteria (as of 1/8/16)

Question 24

Cowden: is a major criterion a biopsy-driven Lipoma or Trichlemomma?

Answer 24

Trichilemomma.

Question 25

PALB2 is associated with increased risk of which two cancers?

Answer 25

breast, pancreatic

Question 26

Attenuated FAP – is it associated with CHRPE? With upper GI cancers? Which? Any genotypephenotype relationships?

Answer 26

no CHRPE yes upper GI (thus need upper endoscopy) 5' and 3' mutations lead to more attenuated FAP vs regular FAP

Question 27

Four actions of BRCA

Answer 27

DUCT - like, breast duct DNA repair Ubiquitination Cell cycle Transcription

Question 28

Cowden - cancers?

Answer 28

BUTT (colon ca = minor criterion) Breast Uterine Thyroid

Question 29

FAP gene?

Answer 29

APC

Question 30

FAP cancers

Answer 30

DBOUGHT (debit) ``` desmoid brain osteomas upper GI hepatoblastoma thyroid ```