Familial cancer syndromes Flashcards
What is BRCA1 and 2?
autosomal dominant inherited tumor suppressor gene
incr risk breast, ovarian fallopian tube and peritoneal cancer
- tumor suppressor genes that encode proteins on DNA repair
- need genetic testing, increased surveillance and risk-reducing surgery and/or chemoprophylaxis
gyn cancers usually advanced high grade serous cancers.
What is breast cancer surveillance in BRCA positive patients?
- age 25-29: breast exam q6-12 mo and annual MRI w/ contrast
- age 30+: annual mammogram and MRI, alternating q6mo. annual breast exam.
BRCA2 more associated with hormonal + breast cancer.
What is ovarian cancer surveillance in BRCA positive patients?
TVUS or CA-125 at age 30-35 until undergo risk-reducing procedure.
What is chemoprophylaxis in BRCA+?
Combined hormonal contraception (OCPs) decrease ovarian cancer risk.
Tamoxifen decreases breast cancer risk in BRCA2.
When do you do risk-reducing BSO?
BRCA1: age 35-40
BRCA2: age 40-45
- need visual inspection of peritoneal cavity and washings. remove all ovarian and fallopian tube tissue
- ligate ovarian vessels 2cm proximal to end of identifiable tissue. If no hyst, fallopian tube divided at insertion to cornua.
- remove ovary at utero-ovarian ligament as close to uterus as possible.
After risk-reducing BSO, if NO breast cancer, can offer HRT to mitigate menopause effects.
What is Lynch syndrome (HNPCC)?
What are lifetime risks of colon, endometrial and ovarian cancers?
AD, defects in mismatch repair system (multiple mutations)
- genetic testing available.
Possible cancers: colon, endometrial, ovarian, gastric, small bowel, renal, ureter, skin.
LIFETIME RISKS:
- colon cancer: risk 75%
- endometrial cancer: 40% (vs 2-3% in general population
- ovarian cancer: 15%
What are screening recommendations for Lynch syndrome?
What is chemoprevention?
- Colon cancer screening: colonoscopy q1-2 yrs at age 20-25 or 2-5 years before earliest cancer diagnosis in family, whichever earlier.
- Endometrial cancer: EMB q1-2 yrs at 30-35. monitor signs of AUB.
- Ovarian cancer: TVUS/Ca-125 not effective (different biology than BRCA). if do screen, do 5-10 yrs before earliest diagnosis. continue until TAH/BSO.
- Breast cancer: normal screening recommendations.
Chemoprevention: 500mg ASAx2yr to decrease risk colorectal cancer
- progestin based contraception (including OCPs) for endometrial cancer.
- risk reducing hyst/bso in early to mid 40s.
What is the risk of ovarian cancer w/ Lynch syndrome?
15%
1.8% in general population