Genetic Cancer Syndromes

Question 1

Cowden dz

Answer 1

AD
PTEN mutation
Increased risk of thyroid, endometrial, breast cancer

Question 2

Lynch syndrome

Answer 2

AD
MSH 2,6, MLH 1, PMS 2
Early onset endometrial and colorectal cancer, increased ovarian cancer risk

Question 3

Individuals with colorectal or endometrial cancer for whom genetic risk assessment is recommended

Answer 3

• Endometrial cancer <50
• Patients with endometrial or ovarian cancer and a synchronous colon tumor at any age
• Patients with endometrial or colorectal cancer and first-degree relative with lynch associated tumor before age 50

Question 4

Screening and surveillance recs for women with Lynch

Answer 4

Colonoscopy q1-2yrs beginning at age 20-25 or 2-5 yrs before earliest cancer diagnosis in family

Endometrial biopsy q1-2 yrs beginning at age 30-35

Evaluation of AUB

(CA125 and US not recommended)

Question 5

Prophylaxis for Lynch

Answer 5

OCPS
PROGESTIN therapy
Prophylactic hyst/BSO
?600 mg ASA daily for reduction of colorectal cancer risk

Question 6

Risk of colorectal, endometrial and ovarian cancer in Lynch by age 70

Answer 6

Up to 60% for endometrial and colorectal

10% for ovarian

Question 7

BRCA 1

Answer 7

Up to 85% risk breast cancer

Up to 45% ovarian cancer

Question 8

BRCA 2

Answer 8

Up to 85% risk breast cancer

Up to 15% ovarian cancer

Question 9

When is BSO Recommended for BRCA 1? 2?

Answer 9

1: 35-40
2: 40-45

Take IP LIGAMENT 2 cm from most distal portion of ovary

Do not send for frozen

Reduces risk of cancer by 80%