Response to genetic counseling and testing for the APC I1307K mutation

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

Research output: Contribution to journalArticle

Abstract

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

Original languageEnglish (US)
Pages (from-to)207-211
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume91
Issue number3
DOIs
StatePublished - 2000

Fingerprint

Genetic Counseling
Genetic Testing
Mutation
Counseling
Colorectal Neoplasms
APC Genes
Jews
Molecular Pathology
Colonic Neoplasms
Neoplasms
Demography
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Response to genetic counseling and testing for the APC I1307K mutation. / Johnson, Karen A.; Rosenblum-Vos, Lynne; Petersen, Gloria M.; Brensinger Trimbath, Jill; Giardiello, Francis M; Griffin, Constance A.

In: American Journal of Medical Genetics, Vol. 91, No. 3, 2000, p. 207-211.

Research output: Contribution to journalArticle

Johnson, Karen A. ; Rosenblum-Vos, Lynne ; Petersen, Gloria M. ; Brensinger Trimbath, Jill ; Giardiello, Francis M ; Griffin, Constance A. / Response to genetic counseling and testing for the APC I1307K mutation. In: American Journal of Medical Genetics. 2000 ; Vol. 91, No. 3. pp. 207-211.
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