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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Hereditary Colon Cancer Syndromes

Table 16. Summary of Prospective Studies Evaluating Participation in Genetic Counseling and Testing for Hereditary Colorectal Cancer (CRC)a,b,c continued...

Colorectal screening for FAP

Less is known about psychological aspects of screening for FAP. One study of a small number of persons (aged 17–53 years) with a family history of FAP who were offered participation in a genetic counseling and testing protocol found that among those who were asymptomatic, all reported undergoing at least one endoscopic surveillance before participation in the study.[77] Only 33% (two of six patients) reported continuing screening at the recommended interval. Of the affected persons who had undergone colectomy, 92% (11 of 12 patients) were adherent to recommended colorectal surveillance. In a cross-sectional study of 150 persons with a clinical or genetic diagnosis of classic FAP or attenuated FAP (AFAP) and at-risk relatives, 52% of those with FAP and 46% of relatives at risk of FAP, had undergone recommended endoscopic screening.[81] Among persons who had or were at risk of AFAP, 58% and 33%, respectively, had undergone screening. Compared with persons who had undergone screening within the recommended time interval, those who had not screened were less likely to recall provider recommendations for screening, more likely to lack health insurance or insurance reimbursement for screening, and more likely to believe that they are not at increased risk of CRC. Only 42% of the study population had ever undergone genetic counseling. A small percentage of participants (14%–19%) described screening as a "necessary evil," indicating a dislike for the bowel preparation, or experienced pain and discomfort. Nineteen percent reported that these issues might pose barriers to undergoing future endoscopies. Nineteen percent reported that improved techniques and the use of anesthesia have improved tolerance for screening procedures.

Risk-reducing surgery for FAP

When persons at risk of FAP develop multiple polyps, risk-reducing surgery in the form of subtotal colectomy or proctocolectomy is the only effective way to reduce the risk of CRC. Most persons with FAP can avoid a permanent ostomy and preserve the anus and/or rectum, allowing some degree of bowel continence. Studies of bowel function after subtotal colectomy show that patients average four to five stools per day in the immediate postoperative period, decreasing to three stools per day by 1 year postsurgery.[82]

Studies of risk-reducing surgery for FAP have found that general measures of quality of life have been within normal range, and the majority reported no negative impact on their body image.[83,84] However, other studies suggest that risk-reducing surgery for FAP may have negative quality-of-life effects for at least some proportion of those affected. Twenty-nine percent of FAP-affected persons who had undergone subtotal colectomy reported that increased stool frequency adversely affected their activities, and 14% reported occasional liquid soiling.[82] When FAP-specific quality-of-life domains were measured, one study indicated that persons undergoing ileal pouch anal anastomosis may experience more adverse outcomes for physical functioning, body image, sexual functioning, and negative affect compared with those who have not had surgery; and physical functioning and negative affect may be worse compared with persons who had an ileorectal anastomosis.[85] Another study showed that 20% of those with good bowel function nonetheless reported fears about incontinence that affected their quality of life.[86]

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