Response to genetic counseling and testing for the APC I1307K mutation

Karen A. Johnson, Lynne Rosenblum-Vos, Gloria M. Petersen, Jill D. Brensinger, Francis M. Giardiello, Constance A. Griffin

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


The APC I1307K gene mutation is associated with increased colorectal cancer (CRC) risk in Ashkenazi Jews. Factors predicting acceptance of this and other hereditary colon cancer mutation tests in a clinical setting are unknown. We analyzed sex, age, family history, personal history, and gene test results of patients at increased risk for cancer who sought cancer risk counseling at the Johns Hopkins (JH) CRC Risk Assessment Clinic (n = 91), and those submitting samples to the JH Pathology Molecular Diagnostic Laboratory (n = 256) for APC I1307K testing. Of patients seen at the JH Clinic, 77/91 (84.6%) elected APC I1307K testing after pretest counseling (acceptors). There were no statistically significant differences in demographic characteristics between acceptors and decliners. In comparison, only 8 of 57 (14.0%) patients offered HNPCC testing proceeded with testing (P<0.001). Of 256 individuals tested at the JH laboratory, most were male (61.3%) and most had a personal or family history of colorectal cancer or polyps. Test positivity correlated with increasing risk of colorectal cancer. Acceptance of testing for the APC I1307K mutation is high, with more men than women pursuing counseling and testing. The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)207-211
Number of pages5
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 2000


  • APC I1307K
  • Cancer susceptibility testing
  • Colorectal cancer
  • Genetic counseling
  • Genetic testing
  • Uptake

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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