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Table 10. Summary of Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancerabc
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 [23] |
219 |
59% pretest GC; posttest GC, GT |
Lynch syndrome |
Unaffected FDRs of CRC patients from HCCR [21] |
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 [22] |
208 |
47% pretest GC; 43% posttest GC, GT |
Lynch syndrome |
CRC patients from an oncology clinic and HCCR [24] |
510 |
89% GT (blood) |
Lynch syndrome |
Unaffected members of 36 Finnish families with a known Lynch syndrome mutation in kindred [25] |
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 [28] |
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 [26] |
101 |
47% pretest GC; 36% posttest GC, GT |
Lynch syndrome |
Unaffected FDRs of known Lynch syndrome mutation carriers [27] |
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 [29] |
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.
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aAll studies used a prospective, observational design with the exception of one randomized trial evaluating two recruitment methods.[26]
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bAll studies offered free GC and GT, with the exception of one study.[28]
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cAll studies were conducted in the United States, with the exception of one Finnish study and one German study.[10,25]
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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.
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fUnaffected = no previous diagnosis of colorectal cancer; affected = current or previous colorectal cancer diagnosis.
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References
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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.
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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]
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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]
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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.
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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.
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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.
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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.
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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]
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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]
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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]
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