Self-Surveillance for Genetic Predisposition to Cancer: Behaviors and Emotions

Ellen Giarelli

ONF 2006, 33(2), 221-231. DOI: 10.1188/06.ONF.221-231

Purpose/Objectives: To describe the kinds of self-monitoring activities and the emotional responses associated with those activities in patients with a genetic predisposition to multiple endocrine neoplasia type 2a (MEN2a) or familial adenomatous polyposis (FAP).

Research Approach: Thematic analysis of the transcripts of patient interviews conducted for two previous grounded theory investigations of participation in lifelong surveillance for patients with cancer predisposition syndromes and their family members.

Setting: In the original studies, participants were recruited through a high-risk gastrointestinal cancer clinic (for FAP) and pediatric and adult endocrinology clinics (for MEN2a) at two eastern U.S. medical centers and by patient referral.

Participants: 58 transcripts of interviews with 29 patients; 17 diagnosed with FAP or the variants of Gardner syndrome and attenuated FAP and 12 patients diagnosed with MEN2a.

Methodologic Approach: Informants participated in two hour-long, in-depth interviews and completed a self-administered sociodemographic questionnaire.

Main Research Variables: Types of self-surveillance activities.

Findings: Patients engage in an elaborate set of self-surveillance activities that are grouped into five categories of behavior: Medication Appraisal, Phenotype Tracking, Intake and Output Monitoring, Laboratory and Treatment Recording, and Tracking of Visits. Self-surveillance behaviors are grouped independent of type of syndrome, penetrance, age, or gender of the patient. Each category comprises a variety of behaviors that correspond with treatment recommendations and understanding of the disorder.

Conclusions: Self-surveillance may be driven by a combination of anticipation and the need for control and understanding.

Interpretation: Findings from the study could be used to create an assessment tool to evaluate the extent to which patients are involved in day-to-day self-monitoring. Clinicians may use the categories to better understand patients' knowledge deficits and the emotional impact of enhanced vigilance. Self-surveillance activities performed by patients with MEN2a and FAP also may be performed by patients with other cancer predisposition syndromes.

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    Beeker, C., Kraft, J.M., Southwell, B.G., & Jorgensen, C.M. (2000). Colorectal cancer screening in older men and women: Qualitative research findings and implications for intervention. Journal of Community Health, 25, 263-278.

    Blalock, S.J., DeVellis, B.M., & Sandler, R.S. (1987). Participation in fecal occult blood screening: A critical review. Preventive Medicine, 16, 9-18.

    Bliss, J., & Johnson, B. (1995). After diagnosis of cancer: The patient's view of life. International Journal of Palliative Nursing, 1(3), 126-133.

    Boyatzis, R.E. (1998). Transforming qualitative information: Thematic analysis and code development. Thousand Oaks, CA: Sage.

    Bussey, H.J.R. (1975). Familial polyposis coli. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore: Johns Hopkins University Press.

    Chi, D.D., & Moley, J.F. (1998). Medullary thyroid carcinoma: Genetic advances, treatment recommendations, and the approach to the patient with persistent hypercalcitonemia. Surgical Oncology Clinics of North America, 7, 681-706.

    Cleiren, M.P., Oskam, W., & Lips, C.J. (1989). Living with a hereditary form of cancer: Experiences and needs of MEN 2 patients and their families. Henry Ford Hospital Medical Journal, 37, 164-166.

    Coyle, C. (2002). Familial colorectal cancers—Familial adenomatous polyposis. Retrieved April 26, 2005, from

    Cruz-Correa, M., & Giardiello, F.M. (2002). Diagnosis and management of hereditary colon cancer. Gastroenterology Clinics of North America, 31, 537-549.

    Easton, D.F., Ponder, M.A., Cummings, T., Gagel, R.F., Hansen, H.H., Reichlin, S., et al. (1989). The clinical and screening age-at-onset distribution for MEN-2 syndrome. American Journal of Human Genetics, 44, 208-215.

    Fitze, G. (2004). Management of patients with hereditary medullary thyroid carcinoma. European Journal of Pediatric Surgery, 14, 375-383.

    Frank-Raue, K., Hoppner, W., Buhr, H., Herfarth, C., & Raue, F. (1997). Results and follow-up in eleven MEN 2A gene carriers after prophylactic thyroidectomy. Experimental and Clinical Endocrinology and Diabetes, 105(Suppl. 4), 76-78.

    Fry, J.H. (1983). Survey research by telephone. Beverly Hills, CA: Sage.

    Fryer, A. (2000). Inappropriate genetic testing of children. Archives of Disease in Childhood, 83, 283-285.

    Giardiello, F.M., Brensinger, J.D., Petersen, G.M., Luce, M.C., Hylind, L.M., Bacon, J.A., et al. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New England Journal of Medicine, 336, 823-827.

    Giardiello, F.M., Offerhaus, G.J., Lee, D.H., Krush, A.J., Tersmette, A.C., Booker, S.V., et al. (1993). Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut, 34, 1394-1396.

    Giarelli, E. (2002). Multiple endocrine neoplasia type 2a (MEN2a): A call for psycho-social research. Psycho-Oncology, 1(1), 59-73.

    Giarelli, E. (2003). Bringing threat to the fore: Participation in lifelong surveillance for genetic risk of cancer. Oncology Nursing Forum, 30, 945-955.

    Gimm, O., & Dralle, H. (1999). C-cell cancer—Prevention and treatment. Langenbeck's Archives of Surgery, 384, 16-23.

    Groves, R.M., & Magilavy, L.J. (1981). Increasing response rates to telephone surveys: A door in the face for foot-in-the-door. Public Opinion Quarterly, 45, 346-358.

    Gurbuz, A.K., Giardiello, F.M., Petersen, G.M., Krush, A.J., Offerhaus, G.J., Booker, S.V., et al. (1994). Desmoid tumors in familial adenomatous polyposis. Gut, 35, 377-381.

    Halling, K.C., Bufill, J.A., Cotter, M., Artz, S.A., Carpenter, A.B., Schaid, D., et al. (1997). Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation. Molecular Diagnosis, 2, 277-286.

    Harper, P.S., & Clarke, A. (1990). Should we test children for "adult" genetic diseases? Lancet, 335, 1205-1206.

    Howe, J.R., Lairmore, T.C., Dou, S., Mishra, S.K., Dilley, W.G., Donis-Keller, H., et al. (1992). Presymptomatic identification of carriers of the multiple endocrine neoplasia type 2a gene using flanking DNA markers. Surgery, 112, 219-225.

    Hyer, W., & Fell, J.M. (2001). Screening for familial adenomatous polyposis. Archives of Disease in Childhood, 84, 377-380.

    Ishikawa, H. (2004). Chemoprevention of carcinogenesis in familial tumors. International Journal of Clinical Oncology, 9, 299-303.

    Jemal, A., Murray, T., Ward, E., Samuels, A., Tiwari, R.C., Ghafoor, A., et al. (2005). Cancer statistics, 2005. CA: A Cancer Journal for Clinicians, 55, 10-30.

    Jo, W.S., & Chung, D.C. (2005). Genetics of hereditary colorectal cancer. Seminars in Oncology, 32, 11-23.

    King, J.E., Dozois, R.R., Lindor, N.M., & Ahlquist, D.A. (2000). Care of patients and their families with familial adenomatous polyposis. Mayo Clinic Proceedings, 75, 57-67.

    Kinzler, K.W., Nilbert, M.C., Su, L.K., Vogelstein, B., Bryan, T.M., Levy, D.B., et al. (1991). Identification of FAP locus genes from chromosome 5q21. Science, 253, 661-665.

    Lairmore, T.C., Frisella, M.M., & Wells, S.A., Jr. (1996). Genetic testing and early thyroidectomy for inherited medullary thyroid carcinoma. Annals of Medicine, 28, 401-406.

    Lal, G., & Gallinger, S. (2000). Familial adenomatous polyposis. Seminars in Surgical Oncology, 18, 314-323.

    Learoyd, D.L., Marsh, D.J., Richardson, A.L., Twigg, S.M., Delbridge, L., & Robinson, B.G. (1997). Genetic testing for familial cancer. Consequences of RET proto-oncogene mutation analysis in multiple endocrine neoplasia, type 2. Archives of Surgery, 132, 1022-1025.

    Ledger, G.A., Khosla, S., Lindor, N.M., Thibodeau, S.N., & Gharib, H. (1995). Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Annals of Internal Medicine, 122, 118-124.

    Manning, P.K., & Cullan-Swan, B. (1998). Narrative, content, and semiotic analysis. In N.K. Denzin & Y.S. Lincoln (Eds.), Collecting and interpreting qualitative materials (pp. 246-274). Thousand Oaks, CA: Sage.

    Matloff, E.T., Brierley, K.L., & Chimera, C.M. (2004). A clinician's guide to hereditary colon cancer. Cancer Journal, 10, 280-287.

    Matthews, D., & Hingson, R. (1977). Improving patient compliance: A guide for physicians. Medical Clinics of North America, 61, 879-889.

    Modigliani, E., Vasen, H.M., Raue, K., Dralle, H., Frilling, A., Gheri, R.G., et al. (1995). Pheochromocytoma in multiple endocrine neoplasia type 2: European study. Journal of Internal Medicine, 238, 363-367.

    Mulligan, L.M., Kwok, J.B., Healy, C.S., Elsdon, M.J., Eng, C., Gardner, E., et al. (1993). Germ-line mutations of the RET proto-oncolgene in multiple endocrine neoplasia syndrome type 2a. Nature, 363, 458-460.

    Nandakumar, G., Morgan, J.A., Silverberg, D., & Steinhagen, R.M. (2004). Familial polyposis coli: Clinical manifestations, evaluation, management and treatment. Mount Sinai Journal of Medicine, 71, 384-391.

    National Comprehensive Cancer Network. (2005). Clinical practice guidelines in oncology: Colorectal cancer screening. Retrieved May 27, 2005, from _screening.pdf

    Neilson, A.R., & Whynes, D.K. (1995). Determinants of persistent compliance with screening for colorectal cancer. Social Science and Medicine, 41, 365-374.

    Offerhaus, G.J., Giardiello, F.M., Krush, A.J., Booker, S.V., Tersmette, A.C., Kelley, N.C., et al. (1992). The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology, 100, 1980-1982.

    Pausova, Z., Soliman, E., Amizuka, N., Janicic, N., Konrad, E.M., Arnold, A., et al. (1996). Role of the RET proto-oncogene in sporadic hyperparathyroidism and in hyperparathyroidism of multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism, 81, 2711-2718.

    Petersen, G.M. (1996). Genetic testing and counseling in familial adenomatous polyposis. Oncology, 10, 89-94.

    Phillips, R.K., Spigelman, A.D., & Thompson, J.P.S. (Eds.). (1994). Familial adenomatous polyposis and other polyposis syndromes. London: Edward Arnold.

    Randolph, G.W., & Maniar, D. (2000). Medullary carcinoma of the thyroid. Cancer Control, 7, 253-261.

    Rhodes, M., & Bradburn, D.M. (1992). Overview of screening and management of familial adenomatous polyposis. Gut, 33, 125-131.

    Richards, L. (1999). Introducing NVivo: A workshop handbook. Melbourne, Australia: QSR International.

    Richards, T.J., & Richards, L. (1998). Using computers in qualitative research. In N.K. Denzin & Y.S. Lincoln (Eds.), Collecting and interpreting qualitative materials (pp. 211-245). Thousand Oaks, CA: Sage.

    Rogers, T.F. (1976). Interviews by telephone and in person: Quality of responses and field performance. Public Opinion Quarterly, 40, 51-56.

    Sabay, T.B., Gray, R.E., & Fitch, M.A. (2000). Qualitative study of patient perspectives on colorectal cancer. Cancer Practice, 8, 38-44.

    Shields, J.A., Shields, C.L., & Singh, A.D. (2000). Acquired tumors arising from congenital hypertrophy of the retinal pigment epithelium. Archives of Ophthamology, 118, 637-641.

    Skinner, M.A., DeBenedetti, M.K., Moley, J.F., Norton, J.A., & Wells, S.A., Jr. (1996). Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. Journal of Pediatric Surgery, 31, 177-1821.

    Sondergaard, J.O., Bulow, S., Jarvinen, H., Wolf, J., Witt, I.N., & Tetens, G. (1987). Dental anomalies in familial adenomatous polyposis coli. Acta Odontologica Scandinavia, 45, 61-63.

    Sprangers, M.A., Taal, B., Aaronson, N.K., & te Velde, A. (1995). Quality of life in colorectal cancer. Stoma vs nonstoma patients. Diseases of the Colon and Rectum, 38, 361-369.

    Steinbach, G., Lynch, P.M., Phillips, R.K., Wallace, M.H., Hawk, E., Gordon, G.B., et al. (2000). The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. New England Journal of Medicine, 342, 1946-1952.

    Strauss, A., & Corbin, S. (1998). Introduction. In Basics of qualitative research: Techniques and procedures for developing grounded theory (2nd ed., pp. 3-15). Thousand Oaks, CA: Sage.

    Szubin, L., Kacker, A., Kakani, R., Komisar, A., & Blaugrund, S. (1996). The management of post-thyroidectomy hypocalcemia. Ear, Nose, and Throat Journal, 75, 612-614, 616.

    Telander, R.L., Zimmerman, D., van Heerden, J.A., & Sizemore, G.W. (1986). Results of early thyroidectomy for medullary thyroid carcinoma in children with multiple endocrine neoplasia type 2a. Journal of Pediatric Surgery, 21, 1190-1194.

    Telenius-Berg, M., Ponder, M.A., Berg, B., Ponder, B.A., & Werner, S. (1989). Quality of life after bilateral adrenalectomy in MEN 2. Henry Ford Hospital Medical Journal, 37, 160-163.

    Wells, S.A., Jr., Baylin, S.B., Leight, G.S., Dale, J.K., Dilley, W.G., & Farndon, J.R. (1982). The importance of early diagnosis in patients with hereditary thyroid carcinoma. Annals of Surgery, 195, 596-599.

    Wells, S.A., Jr., Chi, D.D., Toshima, K., Dehner, L.P., Coffin, C.M., Dowton, S.B., et al. (1994). Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Annals of Surgery, 220, 237-247.

    Wertz, D.C., Fanos, J.H., & Reilly, P.R. (1994). Genetic testing for children and adolescents. Who decides? JAMA, 272, 875-881.