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Table 3 Characteristics of 17 studies reporting clinical, demographic, and/or psychosocial factors related to cancer risk perception in patients with established genetic cancer susceptibility

From: Factors Influencing Cancer Risk Perception in High Risk Populations: A Systematic Review

First author, year Design Cancer Type No. sub-jects Age (years) Gender M/F/ M+F Tested Factors Influencing Risk Perception Study Synopsis
       Clinical Demographic Psychosocial  
Domanska, 2007 [29] Observational, retrospective cohort Colon, Endometrial 47 Mean 49, Range 24-76 M+F Personal history of cancer Age;
  Studied individuals with hereditary nonpolyposis colorectal cancer-causing mutations who underwent genetic counseling. Women and mutation carriers < 50 yrs reported highest PR for colon cancer. A personal history of HNPCC-related cancers was not associated with PR for colon cancer.
Cappelli, 2001 [9] Observational Breast; Ovarian 108 Grp 1 mean 40, Grp 2 mean 32 F ≥1 relative diagnosed with BC    Studied women with ≥1 relative diagnosed with BC and women from general population w/out cancer diagnosis. Women in high risk group had a higher overall perceived risk of getting cancer.
Peterson, 2008 [56] Observational General cancer risk; p53 muta-tion risk 92 Mean 50, Range 18-81 M/F    Cancer-specific distress Studied individuals from Li-Fraumeni syndrome families at high risk of having a p53 mutation. Higher perceived risk of cancer and having a p53 mutation was associated with higher cancer-specific distress.
Codori, 2005 [33] Observational, prospective cohort Colon 101 Mean 44, Range 18-81 M/F +FH of colorectal cancer; Objective risk of CRC; Depressive symptoms Age; Sex; Education Level Belief about preventability of CRC; Anxiety; Coping Style; Tolerance for Ambiguity Studied adults with ≥ 1 relative diagnosed with CRC who received genetic counseling. Lower PR was associated with being older, having higher objectively estimated risk, having few or many FDRs with CRC, and beliefs about the preventability of CRC. A borderline association between PR and anxiety was also found.
Claes, 2004 [57] Observational, prospective cohort Colon; Endometrial 40 Grp 1 mean 41, Grp 2 mean 43 M/F    Distress Studied patients who had a test for HNPCC. Perceived risk of CRC was not found to be associated with intrusion & avoidance measures in a distress scale.
Bruno, 2004 [58] Observational, cross-sectional Breast 677 Mean 45, range 23-78 F +FH of breast or ovarian cancer    Studied women attending an outpatient cancer screening/prevention clinic in Italy. Only a minority perceived having a higher personal risk of BC than their peers, though this number was significantly higher in women with a FH of BC than those without one.
Van Dijk, 2003 [18] Observational Breast 241 < 30: 16%
30-39: 27%
40-49: 33%
50+: 25%
F Objective risk; Having undergone genetic counseling    Studied women with personal or FH of BC and the impact of genetic counseling on perceived risk and worry. Undergoing genetic counseling resulted in more accurate perceptions of risk for breast cancer. Women with a higher PR for BC reported stronger intention to undergo prophylactic mastectomy.
Hensley, 2003 [59] Observational Ovarian 147 Median 47, Range 30-78 F Menopausal status    Studied women at high risk for OC enrolling in a screening study. Premenopausal women were more likely than postmenopausal women to consider themselves at higher risk of ovarian cancer. When comparing themselves to others with similar family history, postmenopausal women considered themselves at higher risk for ovarian cancer.
Di Prospero, 2001 [24] Observational Breast; Ovarian 16 Mean 55, Range 39-83 M/F Receipt of BRCA1/2 genetic test results    Studied individuals who received positive BRCA1/2 test results. Cancer risk perception increased after receipt of genetic test results.
Bratt, 2000 [41] Observational, cross-sectional Prostate 110 40-49: 35%; 50-59: 36%; 60-69: 27%; 70-72: 2% M Number affected family members/
deceased relatives
  Cancer worry; Depression Studied unaffected men with a pedigree consistent with hereditary prostate cancer. PR of cancer was positively correlated with both the number of prostate cancer-affected and deceased members in men's families. PR was also associated with symptoms of depression and cancer worry.
Codori, 1999 [17] Observational, cross-sectional Colon 258 Grp 1 median 44, Grp 2 median 50 M/F Acceptance of genetic testing   Frequency of thoughts about CRC Studied FDRs of patients with CRC. Those who accepted HNPCC testing had higher perceived risk compared to those who declined. The association between risk perception and uptake was dependent on frequency of cancer thoughts.
Rimes, 2006 [15] Observational, prospective cohort Breast; Colon; Ovarian 218 Mean 39, SD 10 M/F +FH of cancer Age Anxiety Studied people with a FH of colon or breast and/or ovarian cancer. Those with a FH of colon cancer had lower PR of developing cancer than people with a FH of BC and/or OC. Younger age predicted greater PR of developing cancer. Before receiving genetic counseling, higher anxiety was associated with higher PR of cancer.
Schwartz, 2000 [46] Observational, prospective cohort Breast; Ovarian 290 < 45 years: 31% F BRCA1/2 test 'uptake'   Spirituality/
Studied adult BC patients who had self-referred to the Cancer Assessment and Risk Evaluation Clinic at a cancer center. PR for BC and OC was found to be associated with patients' decision to undergo BRCA1/2 testing. This association was found to be modified by patients' degree of spirituality.
van Oostrom, 2007 [60] Observational, prospective cohort Breast; Colon; Ovari
271 Grp 1 mean 43; Grp 2 mean 41 M/F Familial mutation type (HNPCC v. BRCA1/2); Mutation carrier status    Studied individuals undergoing genetic testing for a familial BRCA1/2 mutation or mutation predisposing to HNPCC. There were no differences between BRCA1/2 and HNPCC families in levels of perceived risk. For both groups, actual carriers reported greater perceived risk after disclosure of a positive test result.
O'Neill, 2006 [44] Observational, prospective cohort Breast; Ovarian 64 Mean 57, Range 36-80 F    Distress;
Intolerance for uncertainty
Studied women with FH of BC who received uninformative BRCA1/2 results. 6 months after test result disclosure, patients who perceived an elevated BC risk and who difficulty coping with uncertainty reported high levels of ongoing distress.
Matloff, 2006 [12] Experimental Breast 48 Mean 49, Range 41-55 F Objective risk; Use of hormone therapy   Cancer Worry Studied menopausal women with ≥1 FDR with BC, some of whom received a personalized risk assessment intervention. Perceived risk and worry were significantly positively correlated at 6 mos follow-up.
Martin, 2006 [11] Observational, retrospective cohort Breast 56 Mean 44, Range 23-71 F Number of relatives with BC; Age; Education Level Depressive symptoms Studied women with a FH of BC. Age and education level were not found to be significantly associated with perceived risk of breast cancer. However; there was a slight trend toward a higher score on the depressive symptoms scale with a higher level of PR.
  1. NOTE: Factors in italicized text indicate non-significant associations. Common abbreviations include PR = perceived risk; FH = family history; BC = breast cancer; CRC = colorectal cancer; OC = ovarian cancer; FDR = first-degree relative.