An alternative approach to identify women at risk for colorectal cancer. | 2012 ASCO Annual Meeting Abstracts

An alternative approach to identify women at risk for colorectal cancer. | 2012 ASCO Annual Meeting Abstracts

Abstract:
Background: 
Hereditary colorectal cancer (CRC) is preventable; however, identification of individuals at sufficiently high risk to warrant heightened surveillance is difficult. Lynch Syndrome (LS) is an inherited cancer syndrome due to germline mutation in a DNA mismatch repair gene. For women with LS, the lifetime risk of endometrial cancer (EC) is 64% and CRC is 54%. Fifty percent of women with LS will present with EC or ovarian cancer prior to CRC. Therefore, women with LS associated EC represent an ideal group for CRC prevention. The optimal method to identify women with LS associated EC is not known. The purpose of this study was to determine the utility of Amsterdam II and Society of Gynecologic Oncology (SGO) Criteria (modified Bethesda criteria that use EC as the sentinel cancer) in identifying women with LS associated EC. Our ultimate goal is to identify women at increased risk of CRC.


Our data suggest that classic clinical screening criteria are inadequate to detect patients with LS who present with EC, potentially missing up to 25% of these patients.

Gene	MLH1	MSH2	MSH6	PMS2	Total
Total number	14	27	11	7	59
Median age at diagnosis (range)	52 (42-79)	44 (33-81)	56 (31-76)	66 (45-87)	50 (31-87)
Diagnosis at greater than 50 years	7	8	9	6	30
FH CRC	3	16	4	3	26
Amsterdam criteria	3	13	0	1	17
SGO criteria	11	22	7	4	44