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Psychological Impact of Genetic Counseling and Testing for Hereditary Colorectal Cancers

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Book cover Hereditary Colorectal Cancer

Part of the book series: M.D. Anderson Solid Tumor Oncology Series ((MDA,volume 5))

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Abstract

Lynch syndrome/Hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP) are two hereditary cancer syndromes that confer an increased risk for colorectal cancers. Lynch Syndrome and FAP together account for about 5% of all CRC. Deleterious germline mutations associated with these syndromes have been identified in mismatch repair (MMR) genes (i.e., hMLH1, hMSH2, hMLH6, PMS1) for Lynch syndrome and in the APC gene for FAP. Genetic testing enables health care providers to identify individuals who carry such mutations and thus have a risk for developing colorectal cancer and other tumors that substantially exceeds the general population risk for this disease. A primary benefit of genetic testing is the ability to offer targeted options for cancer risk management to persons at increased risk due to an inherited susceptibility.

Since genetic testing for Lynch syndrome and FAP became clinically available over a decade ago, psychosocial research has focused on understanding individuals’ motivations and decisions regarding genetic testing, the psychological impact of genetic risk notification, effects on family and interpersonal relationships, and factors that influence the uptake of risk reduction options (e.g., screening, risk-reducing surgery, or chemoprevention). This chapter will review the literature on these topics for Lynch syndrome and FAP. Findings from psychosocial research on Lynch syndrome and FAP can guide clinicians in understanding why people seek genetic counseling and testing, what they hope to gain from it, and how they cope with the results of testing and integrate that information into cancer prevention and treatment decisions.

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Correspondence to Susan K. Peterson .

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Peterson, S.K. (2010). Psychological Impact of Genetic Counseling and Testing for Hereditary Colorectal Cancers. In: Rodriguez-Bigas, M., Cutait, R., Lynch, P., Tomlinson, I., Vasen, H. (eds) Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-6603-2_33

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  • DOI: https://doi.org/10.1007/978-1-4419-6603-2_33

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