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Cancer Health Center

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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Hereditary Colon Cancer Syndromes

Table 17. Summary of Studies Evaluating Attitudes Toward, Interest in, or Intention to Use Assisted Reproductive Technology (ART) for FAPa, LSb, and PJSa continued...

Gynecologic cancer screening in LS

Several small studies have examined the use of screening for endometrial and ovarian cancers associated with LS (see Table 18). There are several limitations to these studies, including small sample sizes, short follow-up, retrospective design, reliance on self-report as the data source, and some not including patients who had undergone LS genetic testing. Several studies have included individuals in the screening uptake analysis who do not meet the minimum age criteria for undergoing screening. Of the studies that assessed screening use after a negative test result for a known mutation in the family, only a few assessed indications for that screening, such as follow-up of a previously identified abnormality. Last, some studies have included patients in the uptake analysis who were actively undergoing treatment for another cancer, which could influence provider screening recommendations. Therefore, Table 18 is limited to studies with patients who had undergone LS genetic testing, larger sample sizes, longer follow-up, and analysis that included individuals of an appropriate screening age.

Table 18. Uptake of Gynecologic Screening Among Women Who Have Undergone Lynch Syndrome (LS) Genetic Testing

Study CitationStudy PopulationUptake of Gynecologic Screening Before Genetic Counseling and TestingUptake of Gynecologic Screening After Receipt of Genetic Test ResultsLength of Follow-upComments
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.
1 Prospective study design.
2 Retrospective study design.
a Self-report as data source.
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 reportedTVUS3 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
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