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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bowen DJ, Patenaude AF, Vernon SW. Psychosocial issues in cancer genetics: from the Âlaboratory to the public. Cancer Epidemiol Biomarkers Prev. 1999;8:326–8.
Hadley DW et al. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med. 2003;163:573–82.
Codori AM. Psychological opportunities and hazards in predictive genetic testing for cancer risk. Gastroenterol Clin N Am. 1997;26(1):19–39.
Lerman C et al. Genetic testing in families with hereditary nonpolyposis colon cancer. J Am Med Assoc. 1999;281(17):1618–22.
Aktan-Collan K et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer. 2000;89(1):44–50.
Keller M et al. Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling. Dis Colon Rectum. 2004;47(2):153–62.
Codori AM et al. Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiol Biomarkers Prev. 1999;8(4 Pt 2):345–51.
Vernon SW et al. Intention to learn results of genetic testing for hereditary colon cancer. Cancer Epidemiol Biomarkers Prev. 1999;8(4 Pt 2):353–60.
Lindor NM et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296(12):1507–17.
Umar A et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261–8.
Manne SL et al. Knowledge and attitudes about microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2007;16(10):2110–7.
Rozen P, Macrae F. Familial adenomatous polyposis: the practical applications of clinical and molecular screening. Fam Cancer. 2006;5(3):227–35.
Andrews L et al. Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support, and information needs. Genet Med. 2006;8(11):697–703.
Evans DGR et al. Uptake of genetic testing for cancer predisposition. J Med Genet. 1997;34(9):746–8.
Petersen GM, Boyd PA. Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. Monogr Natl Cancer Inst. 1995;17:67–71.
Balmana J et al. Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes. J Med Genet. 2004;41(4):e44.
Kastrinos F et al. Attitudes toward prenatal genetic testing in patients with familial Âadenomatous polyposis. Am J Gastroenterol. 2007;102(6):1284–90.
Green MJ et al. Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. Genet Med. 2005;7(4):221–9.
Green MJ et al. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. J Am Med Assoc. 2004;292(4):442–52.
Wakefield CE et al. Development and pilot testing of two decision aids for individuals considering genetic testing for cancer risk. J Genet Couns. 2007;16(3):325–39.
Wakefield CE et al. A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk. Breast Cancer Res Treat. 2008;107(2):289–301.
Aktan-Collan K et al. Psychological consequences of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a prospective follow-up study. Int J Cancer. 2001;93(4):608–11.
Gritz ER et al. Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2005;23(9):1902–10.
Meiser B et al. Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer. Clin Genet. 2004;66(6):502–11.
Collins VR et al. The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med. 2007;9(5):290–7.
Esplen MJ et al. The experience of loss and anticipation of distress in colorectal cancer patients undergoing genetic testing. J Psychosom Res. 2003;55(5):427–35.
van Oostrom I et al. Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing. Ann Oncol. 2006;17(7):1090–5.
Vernon SW et al. Correlates of psychologic distress in colorectal cancer patients undergoing genetic testing for hereditary colon cancer. Health Psychol. 1997;16(1):73–86.
Gritz ER et al. Distress in the cancer patient and its association with genetic testing and counseling for hereditary non-polyposis colon cancer. Cancer Res Ther Control. 1999;8:35–49.
Murakami Y et al. Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma. Cancer. 2004;101(2):395–403.
Patenaude AF. Genetic testing for cancer: psychological approaches for helping patients and families. Washington, DC: American Psychological Association; 2005.
Michie S, Bobrow M, Marteau TM. Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet. 2001;38:519–26.
Michie S et al. Predictive genetic testing: high risk expectations in the face of low risk information. J Behav Med. 2002;25(1):33–50.
Esplen MJ et al. Quality of life in adults diagnosed with familial adenomatous polyposis and desmoid tumor. Dis Colon Rectum. 2004;47(5):687–95. discussion 695-6.
Codori AM et al. Genetic testing for cancer in children: short term psychological effect. Arch Pediatr Adolesc Med. 1996;150:1131–8.
Codori AM et al. Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. Am J Med Genet. 2003;116A:117–28.
Peterson SK. The role of the family in genetic testing: theoretical perspectives, current knowledge, and future directions. Health Educ Behav. 2005;32(5):627–39.
American Society of Clinical Oncology Policy Statement Update. Genetic testing for cancer susceptibility. J Clin Oncol. 2003;21(12):2397–406.
Gaff CL et al. Facilitating family communication about predictive genetic testing: probands’ perceptions. J Genet Couns. 2005;14(2):133–40.
Mesters I et al. Informing one’s family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study. Fam Cancer. 2005;4(2):163–7.
Peterson SK et al. How families communicate about HNPCC genetic testing: findings from a qualitative study. Am J Med Genet. 2003;119C(1):78–86.
Pentz RD et al. Hereditary nonpolyposis colorectal cancer family members’ perceptions about the duty to inform and health professionals’ role in disseminating genetic information. Genet Test. 2005;9(3):261–8.
Lynch HT et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer. 2008;7(1):27–39.
Claes E et al. Predictive testing for hereditary non-polyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test. 2005;9(1):54–65.
Collins V et al. Screening and preventive behaviors one year after predictive genetic testing for hereditary non-polyposis colorectal carcinoma. Cancer. 2005;104(2):273–81.
Hadley DW et al. Colon cancer screening practices after genetic counseling and testing for hereditary non-polyposis colorectal cancer. J Clin Oncol. 2004;22(1):39–44.
Halbert CH et al. Colon cancer screening practices following genetic testing for Hereditary Non-polyposis Colon Cancer (HNPCC) mutations. Arch Intern Med. 2004;164(17):1881–7.
Bleiker EM et al. Screening behavior of individuals at high risk for colorectal cancer. Gastroenterology. 2005;128(2):280–7.
Wagner A et al. Long-term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer. 2005;4(4):295–300.
Yang K et al. Awareness of gynecologic surveillance in women from hereditary non-polyposis colorectal cancer families. Fam Cancer. 2006;5(4):405–9.
Lynch HT et al. Etiology, natural history, management, and molecular genetics of hereditary non-polyposis colorectal cancer (Lynch Syndromes): genetic counseling implications. Cancer Epidemiol Biomarkers Prev. 1997;6:987–91.
Schmeler KM, Sun CC, Bodurka DC, White KG, Soliman PT, Uyei AR, et al. Prophylactic bilateral salpingo-oophorectomy compared with surveillance in women with BRCA mutations. Obstet Gynecol. 2006;108:515–20.
Stoffel EM et al. Cancer surveillance is often inadequate in people at high risk for colorectal cancer. J Med Genet. 2003;40(5):e54.
Kinney AY et al. Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. Am J Gastroenterol. 2007;102(1):153–62.
Van Duijvendijk P et al. Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg. 2000;87(5):590–6.
Eu KW et al. Clinical outcome and bowel function following total abdominal colectomy and ileorectal anastomosis in the Oriental population. Dis Colon Rectum. 1998;41(2):215–8.
Lim JF, Ho YH. Total colectomy with ileorectal anastomosis leads to appreciable loss in quality of life irrespective of primary diagnosis. Tech Coloproctol. 2001;5(2):79–83.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/978-1-4419-6603-2_33
Published:
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4419-6602-5
Online ISBN: 978-1-4419-6603-2
eBook Packages: MedicineMedicine (R0)