NCCN 2015 Genetic/Familial High-Risk Assessment: Colorectal

NCCN (references to non-polyposis/polyposis syndromes/Li-Fraumeni... + changes re: breast cancer also note: urothelial)

MSH1/2 + EPCAM mutation carriers

 There are data to suggest that aspirin may decrease the risk of colon cancer in LS; however, at this time the data are not sufficiently robust to make a recommendation for its standard use.

Extracolonic:

Endometrial and ovarian cancer:

Prophylactic hysterectomy and bilateral salpingo-oophorectomy (BSO) is a risk-reducing option that should be considered by women who have completed childbearing.

Patients must be aware that dysfunctional uterine bleeding warrants evaluation.

There is no clear evidence to support screening for endometrial cancer for LS. However, annual office endometrial sampling is an option.

While there may be circumstances where clinicians find screening helpful, data do not support routine ovarian screening for LS. Transvaginal ultrasound for ovarian and endometrial cancer has not been shown to be sufficiently sensitive or specific as to support a positive recommendation, but may be considered at the clinician’s discretion. Serum CA-125 is an additional ovarian screening test with caveats similar to transvaginal ultrasound.

Gastric and small bowel cancer: 

There is no clear evidence to support screening for gastric, duodenal, and small

bowel cancer for LS. Selected individuals or families or those of Asian descent

may consider EGD with extended duodenoscopy (to distal duodenum or into the jejunum) every 3–5 y beginning at age 30–35 y.

Urothelial

Consider annual urinalysis starting at 25–30 y.

 Central nervous system (CNS) cancer: 

Annual physical/neurologic examination starting at 25–30 y; no additional screening recommendations have been made.

Pancreatic cancer:  

Despite data indicating an increased risk for pancreatic cancer, no effective screening techniques have been identified; therefore, no screening recommendation is possible at this time.

Breast cancer: There have been suggestions that there is an increased risk for breast cancer in LS patients; however, there is not enough evidence to support increased screening above average-risk breast cancer screening recommendation