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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 07/11/2014

Table 17. Uptake of Gynecologic Screening Among Women Who Have Undergone Lynch Syndrome (LS) Genetic Testing

Study Citation Study Population Uptake of Gynecologic Screening Before Genetic Counseling and Testing Uptake of Gynecologic Screening After Receipt of Genetic Test Results Length of Follow-up Comments 
Claes et al. (2005)1,a [32]Carriers (n = 7)Not reportedTVUS 1 yOne noncarrier reported undergoing TVUS for a previous endometrial problem, while three noncarriers reported undergoing the procedure for preventive reasons.
– Carriers 86% (6/7)
Noncarriers (n = 16)
– Noncarriers 27% (4/15)
Collins et al. (2007)1,a [29]Carriers (n = 13)Not reportedTVUS 3 yTwo of four carriers had an RRH/RRSO by the 3-year follow-up assessment.
– Carriers 69% (9/13)
– Noncarriers 6% (2/32)
Noncarriers (n = 32)ES
– Carriers 54% (7/13)
– Noncarriers 3% (1/32)
Yurgelun et al. (2012): Cohort 12,a [56]77 at risk of LS-associated EC; 45 carriers; 19 no genetic testing but LS-associated family history75% (58/77) engaged in EC screening or EC risk-reduction intervention; 42 underwent annual TVUS and/or ES; 16 underwent RRHNot reportedN/A
Yurgelun et al. (2012): Cohort 21,a [56]40 women at clinical risk of LS65% (26/40) adhered to EC screening or risk reduction; 6 underwent RRH; 13 underwent annual ES and/or TVUS; 6 had not reached recommended screening ageCarriers: 100% (n = 16) adhered to EC screening or risk-reducing strategies; 4 underwent pretest RRH; 5 underwent RRH; 5 underwent EC screening (TVUS and/or ES); 2 had not reached recommended screening age1 y
Carriers (n = 16)
Noncarriers (n = 9); 14 indeterminate results; 1 variant of uncertain significanceNoncarriers: 11% (1/9) underwent EC screening; 11% (1/9) underwent RRH

EC = endometrial cancer; ES = endometrial sampling; RRH = risk-reducing total abdominal hysterectomy; RRSO = risk-reducing salpingo-oophorectomy; TVUS = transvaginal ultrasound.
Noncarrier(s) = negative for known mutation in family.
1Prospective study design.
2Retrospective study design.
aSelf-report as data source.


  1. Collins VR, Meiser B, Ukoumunne OC, et al.: The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med 9 (5): 290-7, 2007.  [PUBMED Abstract]

  2. Claes E, Denayer L, Evers-Kiebooms G, et al.: Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test 9 (1): 54-65, 2005.  [PUBMED Abstract]

  3. Yurgelun MB, Mercado R, Rosenblatt M, et al.: Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome. Gynecol Oncol 127 (3): 544-51, 2012.  [PUBMED Abstract]