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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...

A large cross-sectional study of 525 persons from 145 families affected by or at high risk of FAP reported that surgically treated patients had significantly lower scores on several health-related quality-of-life domains, including physical functioning, social functioning, and defecation problems, as assessed by the Dutch version of the SF-36 Health Survey.[87] Among surgically treated patients (n = 296) in this study, predictors of higher levels of physical functioning included being male and having no comorbid conditions or complications during surgery. Having a stoma predicted poorer body image. Worse problems with defecation were predicted by having had surgical complications or comorbid conditions, such as cardiovascular disease or diabetes mellitus. Those who reported better social functioning were more likely to have a higher educational level, have children, and not have a comorbid condition. The analyses controlled for clinical and sociodemographic variability including age at time of surgery, type of surgery, and personal cancer history (9% [n = 45] had a personal history of cancer at the time of the study).

A cross-sectional study of 209 adults with FAP participating in a Swedish registry who had undergone prophylactic colorectal surgery found that 91% of participants reported at least one (out of 21) symptom (e.g., diarrhea, stomach grumbling, and nighttime urge of defecation) from the Abdominal Symptom Questionnaire within the previous 3 months.[88] All 21 symptoms were reported at least once by the participants. A higher number of symptoms were reported by women than men (P < .01); however, no differences were found between men and women in overall troublesomeness of symptoms. Self-reported number of symptoms was an independent predictor of physical and mental health with a high number of symptoms related to poor physical and mental health. For purposes of comparison, a population-based sample of Swedish adults (N = 1,290) responding to the Abdominal Symptom Questionnaire found 54% reported at least one abdominal symptom. Women within the population-based sample also reported significantly higher levels of symptoms than men, with the highest rates amongst young women.[89]


Chemoprevention trials are currently under way to evaluate the effectiveness of various therapies for persons at risk of LS and FAP.[90,91] In a sample of persons diagnosed with FAP who were invited to take part in a 5-year trial to evaluate the effects of vitamins and fiber on the development of adenomatous polyps, 55% agreed to participate.[92] Participants were more likely to be younger, to have been more recently diagnosed with FAP, and to live farther from the trial center, but did not differ from nonparticipants on any other psychosocial variables.

Family communication

Family communication about genetic testing for hereditary CRC susceptibility, and specifically about the results of such testing, is complex. It is generally accepted that communication about genetic risk information within families is largely the responsibility of family members themselves. A few studies have examined communication patterns in families who had been offered LS genetic counseling and testing. Studies have focused on whether individuals disclosed information about LS genetic testing to their family members, to whom they disclosed this information, and family-based characteristics or issues that might facilitate or inhibit such communication. These studies examined communication and disclosure processes in families after notification by health care professionals about a LS predisposition and have comprised relatively small samples.


WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
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