Table 17. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c

SyndromeStudy PopulationNdGC and GT Participatione
LSAffectedf and unaffectedf members of four extended families from HCCR with a known LS pathogenic variant 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 pathogenic variant 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 pathogenic variant 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 carriers of LS pathogenic variants [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 pathogenic variant 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.

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