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Perceptions of Cancer Risks and Predictors of Colon and Endometrial Cancer Screening in Women Undergoing Genetic Testing for Lynch Syndrome

Donald W. Hadley, Jean F. Jenkins, Seth M. Steinberg, David Liewehr, Stephanie Moller, Jean C. Martin, Kathleen A. Calzone, Peter W. Soballe, Ilan R. Kirsch

From the Social & Behavioral Research Branch; Office of the Director, National Human Genome Research Institute; Biostatistics and Data Management Section and the Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health; Uniformed Services University of the Health Sciences, Bethesda, MD; and the Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI

Corresponding author: Donald W. Hadley, MS, National Institutes of Health, 31 Center Drive, MSC 2073, Building 31, Room B1B37F, Bethesda, MD 20892-2073; e-mail: dhadley{at}mail.nih.gov

Purpose Lynch syndrome poses multiple cancer risks, yet attention has focused on screening for colorectal cancer. Estimated risks for endometrial cancer equal risks for colorectal cancer. This study (1) evaluated women's perceived risks for cancers, (2) compared endometrial cancer screening and colonoscopy, and (3) identified predictors of screening before and after genetic testing.

Patients and Methods Sixty-five adult women at 50% risk for carrying a cancer-predisposing mutation, without a history of endometrial cancer or hysterectomy, participated in genetic counseling and received unequivocal genetic test results for Lynch syndrome. Participants completed questionnaires before and after receipt of genetic results.

Results Pretest, perceived risks for colon cancer were significantly higher than for extracolonic cancers (P < .0001). Use of colonoscopy was significantly higher (P = .006) than endometrial cancer screening. Post-test, carriers demonstrated a significant (P < .0001) increase in their perceived risk for extracolonic cancers and increased both colonoscopy (P = .79) and endometrial cancer screening (P = .11). Mutation status, age, perceived likelihood of carrying a mutation, and communication of test results to their physician independently predicted cancer screening at follow-up.

Conclusion Women in families with Lynch syndrome are less aware of their risks for extracolonic cancers and undergo endometrial cancer screening significantly less often than colonoscopy before genetic counseling. Given the significantly increased risks for endometrial and ovarian cancers and the mortality associated with ovarian cancer, additional efforts to inform families of cancer risks and screening recommendations seem prudent. Physicians play a critical role in ensuring appropriate cancer screening in women with Lynch syndrome.

Supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Cancer Institute at the National Institutes of Health in Bethesda, MD.

The views expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, Department of Health and Human Services, or the US Government.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

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