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

Table 18. Uptake of Gynecologic Screening Among Women Who Have Undergone Lynch Syndrome (LS) Genetic Testing continued...

Overall, these studies have included relatively small numbers of women and suggest that screening rates for LS-associated gynecologic cancers are low before genetic counseling and testing. However, after participation in genetic education and counseling and the receipt of LS mutation test results, uptake of gynecologic cancer screening in carriers generally increases, while noncarriers decrease use.

Risk-reducing surgery for LS

There is no consensus regarding the use of risk-reducing colectomy for LS, and little is known about decision-making and psychological sequelae surrounding risk-reducing colectomy for LS.

Among persons who received positive test results, a greater proportion indicated interest in having risk-reducing colectomy after disclosure of results than at baseline.[3] This study also indicated that consideration of risk-reducing surgery for LS may motivate participation in genetic testing. Before receiving results, 46% indicated that they were considering risk-reducing colectomy, and 69% of women were considering risk-reducing total abdominal hysterectomy (RRH) and risk reducing bilateral salpingo-oophorectomy (RRSO); however, this study did not assess whether persons actually followed through with risk-reducing surgery after they received their test results. Before undergoing LS genetic counseling and testing, 5% of cancer-unaffected individuals at risk of a MMR mutation in a longitudinal study reported that they would consider colectomy, and 5% of women indicated that they would have an RRH and an RRSO, if they were found to be mutation-positive. At 3 years after disclosure of results, no participants had undergone risk-reducing colectomy.[29,52] Two women who had undergone an RRH before genetic testing underwent RRSO within 1 year after testing,[52] however, no other female mutation carriers in the study reported having either procedure at 3 years after test result disclosure.[29]

In a cross-sectional quality-of-life and functional outcome survey of LS patients with more extensive (subtotal colectomy) or less extensive (segmental resection or hemicolectomy) resections, global quality-of-life outcomes were comparable, although patients with greater extent of resection described more frequent bowel movements and related dysfunction.[57]

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.[53] 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.[58] 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.

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