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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 07/11/2014

Table 15. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c

Syndrome Study Population Nd GC and GT Participatione 
LSAffectedf and unaffectedf members of four extended families from HCCR with a known LS mutation in kindred [3]21959% pretest GC; posttest GC, GT
LSUnaffected FDRs of CRC patients from HCCR [1]50521% pretest GC; 26% pending pretest GC; 15% GT (blood); 4% pending GT (blood)
LSAffected and unaffected members of four extended families from HCCR with a known LS mutation in kindred [2]20847% pretest GC; 43% posttest GC, GT
LSCRC patients from an oncology clinic and HCCR [4]51089% GT (blood)
LSUnaffected members of 36 Finnish families with a known LS mutation in kindred [5]44678% pretest GC; 75% posttest GC, GT
LS and familial CRCAffected and unaffected persons who underwent GC in a high-risk colon cancer clinic [9]57 (LS); 91 (familial CRC)LS: 14% posttest GC, GT
APC I130K: 85% posttest GC, GT
LSCRC patients diagnosed age <60 y with affected FDR or second-degree relative recruited through physicians [6]10147% pretest GC; 36% posttest GC, GT
LSUnaffected FDRs of known LS mutation carriers [7]11151% pretest GC; 50% posttest GC, GT
LSCRC patients from HCCR, relatives, and spouses [8]14026% pretest GC
FAPUnaffected persons from HCCR age >5 y with FAP-affected parent and known APC mutation in family [10]57 adults; 38 minors87% pretest GC; posttest GC, GT (82% adults; 95% minors)

FAP = familial adenomatous polyposis; FDR = first-degree relative; GC = genetic counseling; GT = genetic testing; HCCR = hereditary colon cancer registry; LS = Lynch syndrome.
aAll studies used a prospective, observational design with the exception of one randomized trial evaluating two recruitment methods.[6]
bAll studies offered free GC and GT, with the exception of one study.[9]
cAll studies were conducted in the United States, with the exception of one Finnish study and one German study.[5,8]
dIndicates number of participants older than 18 years, 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.
fAffected = current or previous CRC diagnosis; Unaffected = no previous diagnosis of CRC.

References

  1. 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]

  2. 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]

  3. 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]

  4. 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]

  5. 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]

  6. 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]

  7. 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]

  8. 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]

  9. 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]

  10. 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]