BREAST SYNDROMES Flashcards
POLAND SEQUENCE
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) Associated with?
1) 1 in 30,000
M>F = 3:1
2) sporadic
3) theories:
- vascular disruption
- dev failure
4) breast + NAC hypoplasia or absence
trunk: absent costal cartilages (2-5), sternal rotation + herniation of lung
absent pec minor, sternal head of PM
absent anterior axillary fold, sc fat + axillary hair
hypoplastic or absent LD, serratus, EO, trapezius
scoliosis
upper extremity: hypoplasia of ipsilateral forearm + hand brachysyndactyly, acrosyndactyly
symphalangism, 1st webspace contracture
5) a/w Mobius, Klippel-Fiel
renal hypoplasia
leukemia, NHL
Sprengel anomaly
hemi-vertebrae
LI FRAUMENI
1) Incidence
2) Inheritance
3) Etiology
4) Features
5) High risks of?
1) 1 in 100,000
2) AD
3) TP53 mutation
17p13.1
4) early onset multiple malignancies: breast, sarcoma, brain, adrenal, GI, ovarian, leukemia
5) 70-100% cancer development by age 70
BRCA1
1) Incidence
2) Inheritance
3) Etiology
4) Risks
5) Community at risk?
1) 1 in 1000
2) AD
3) BRCA1 mutation
4) breast + ovarian ca
males: ↑ risk of prostate, colon ca
5) Ashkenazi Jewish heritage
55-65% risk of breast ca → more likely triple neg + high grade
33% risk of ovarian ca
BRCA2
1) Incidence
2) Inheritance
3) Etiology
4) Risks
1) 1 in 500
2) AD
3) BRCA2 mutation
4)↑ risk of pancreas, stomach ca, lymphoma, melanoma
↑ risk of male breast cancer
45% lifetime risk of breast ca
acts like sporadic breast ca
COWDEN
1) Incidence
2) Inheritance
3) Etiology
4) Associations and Risks?
1) 1 in 200,000
2) AD
3) PTEN mutation
4) multiple hamartoma syndrome, trichilemomas, macrocephaly
↑ risk of malignancy: breast, thyroid, endometrium, kidney, colon 85% lifetime risk of breast ca
PEUTZ-JEGHERS
1) Incidence
2) Inheritance
3) Etiology
4) Associations and Risks?
1) 1 in 100,000
2) AD
3)STK11 mutation
19p13.3
4) hamartomatous polyps throughout GI tract
mucocutaneous pigmentation
↑ risk of breast, ovarian, stomach, colon, pancreas cancers
