Syndrome	Study Population	Nd	GC and GT Participatione
Lynch syndrome	Affectedf and unaffectedf members of four extended families from HCCR with a known Lynch syndrome mutation in kindred [22]	219	59% pretest GC; posttest GC, GT
Lynch syndrome	Unaffected FDRs of CRC patients from HCCR [20]	505	21% pretest GC; 26% pending pretest GC; 15% GT (blood); 4% pending GT (blood)
Lynch syndrome	Affected and unaffected members of four extended families from HCCR with a known Lynch syndrome mutation in kindred [21]	208	47% pretest GC; 43% posttest GC, GT
Lynch syndrome	CRC patients from an oncology clinic and HCCR [23]	510	89% GT (blood)
Lynch syndrome	Unaffected members of 36 Finnish families with a known Lynch syndrome mutation in kindred [24]	446	78% pretest GC; 75% posttest GC, GT
Lynch syndrome and FCC	Affected and unaffected persons who underwent GC in a high-risk colon cancer clinic [27]	57 (Lynch syndrome); 91 (FCC)	Lynch syndrome: 14% posttest GC, GT
			APCI130K: 85% posttest GC, GT
Lynch syndrome	CRC patients diagnosed age <60 y with affected FDR or second-degree relative, recruited through physicians [25]	101	47% pretest GC; 36% posttest GC, GT
Lynch syndrome	Unaffected FDRs of known Lynch syndrome mutation carriers [26]	111	51% pretest GC; 50% posttest GC, GT
Lynch syndrome	CRC patients from HCCR, relatives, and spouses [10]	140	26% pretest GC
FAP	Unaffected persons from HCCR age >5 y, with FAP-affected parent and known APC mutation in family [28]	57 adults; 38 minors	87% pretest GC; posttest GC, GT (82% adults; 95% minors)

CRC = colorectal cancer; FAP = familial adenomatous polyposis; FCC = familial colorectal cancer; FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry.

aAll studies used a prospective, observational design with the exception of one randomized trial evaluating two recruitment methods.[25]

bAll studies offered free GC and GT, with the exception of one study.[27]

cAll studies were conducted in the United States, with the exception of one Finnish study and one German study.[10,24]

dIndicates number of participants older than 18 y, unless otherwise specified.

eGC = participated in pretest or posttest genetic counseling; GT = participated in genetic testing and received results; GT (blood) = only provided blood sample for genetic testing.

fUnaffected = no previous diagnosis of colorectal cancer; affected = current or previous colorectal cancer diagnosis.

References

10. Keller M, Jost R, Kadmon M, et al.: Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling. Dis Colon Rectum 47 (2): 153-62, 2004.  [PUBMED Abstract]
    
    
20. Codori AM, Petersen GM, Miglioretti DL, et al.: Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiol Biomarkers Prev 8 (4 Pt 2): 345-51, 1999.  [PUBMED Abstract]
    
    
21. Lerman C, Hughes C, Trock BJ, et al.: Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 281 (17): 1618-22, 1999.  [PUBMED Abstract]
    
    
22. Lynch HT, Lemon SJ, Karr B, et al.: Etiology, natural history, management and molecular genetics of hereditary nonpolyposis colorectal cancer (Lynch syndromes): genetic counseling implications. Cancer Epidemiol Biomarkers Prev 6 (12): 987-91, 1997.  [PUBMED Abstract]
    
    
23. Vernon SW, Gritz ER, Peterson SK, et al.: Intention to learn results of genetic testing for hereditary colon cancer. Cancer Epidemiol Biomarkers Prev 8 (4 Pt 2): 353-60, 1999.  [PUBMED Abstract]
    
    
24. Aktan-Collan K, Mecklin JP, Järvinen H, et al.: Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 89 (1): 44-50, 2000.  [PUBMED Abstract]
    
    
25. Loader S, Shields C, Levenkron JC, et al.: Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer. Genet Test 6 (4): 281-90, 2002.  [PUBMED Abstract]
    
    
26. Hadley DW, Jenkins J, Dimond E, et al.: Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med 163 (5): 573-82, 2003.  [PUBMED Abstract]
    
    
27. Johnson KA, Rosenblum-Vos L, Petersen GM, et al.: Response to genetic counseling and testing for the APC I1307K mutation. Am J Med Genet 91 (3): 207-11, 2000.  [PUBMED Abstract]
    
    
28. Petersen GM, Boyd PA: Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. J Natl Cancer Inst Monogr (17): 67-71, 1995.  [PUBMED Abstract]