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Vodermaier A.,University of British Columbia | Vodermaier A.,Ludwig Maximilians University of Munich | Rothenmund H.,Familial GI Cancer Registry | Gallinger S.,Familial GI Cancer Registry | And 6 more authors.
Familial Cancer | Year: 2010

Individuals at increased risk for pancreatic cancer who undergo screening can experience psychological and emotional distress. The objective of this study is to determine whether individuals participating in a pancreatic cancer screening program experience disruptions in risk perception, cancer-related anxiety or emotional distress. A pretestposttest design was used to examine perceived risk and psychological functioning of individuals participating in a pancreatic cancer screening protocol. The screening protocol includes genetic counselling, transcutaneous abdominal ultrasound, magnetic resonance imaging, and blood collection and eligible participants included individuals with a family history of pancreatic cancer or BRCA2 mutation carriers. At baseline, participants (n = 198) showed low to moderate levels of risk perception, pancreatic cancer-related anxiety, and general distress. Participants with familial pancreatic cancer (FPC) (n = 131) endorsed higher risk perception of pancreatic cancer than the BRCA2 carriers (n = 67) (perceived lifetime risk 42 vs. 15%), but did not differ on cancer worry or general distress prior to the first study appointment. From baseline to 3 months follow-up, no significant time or time by group interactions emerged on risk perception or general distress, but cancer worry decreased over time for the FPC group regardless of the number of affected relatives. Our findings indicate that participation in a pancreatic cancer screening program does not lead to a significant increase in risk perception, cancer worry, or general distress and that participants with high baseline levels of risk perception and distress may benefit from a more comprehensive risk assessment and psychological support. © 2010 Springer Science+Business Media B.V. Source

Esplen M.J.,A+ Network | Esplen M.J.,University of Toronto | Esplen M.J.,De Souza Institute | Wong J.,University of Toronto | And 10 more authors.
Clinical Genetics | Year: 2015

A cross-sectional study of 155 participants who underwent genetic testing for Lynch syndrome (LS) examined long-term psychosocial and behavioral outcomes. Participants completed standardized measures of perceived risk, psychosocial functioning, knowledge, and a questionnaire of screening activities. Participants were on average 47.3 years and had undergone testing a mean of 5.5 years prior. Eighty four (54%) tested positive for a LS mutation and 71 (46%) negative. For unaffected carriers, perceived lifetime risk of colorectal cancer was 68%, and surprisingly, 40% among those testing negative. Most individuals demonstrated normative levels of psychosocial functioning. However, 25% of those testing negative had moderate depressive symptoms, as measured by the Center for Epidemiologic Studies for Depression Scale, and 31% elevated state anxiety on the State-Trait Anxiety Inventory. Being female and a stronger escape - avoidant coping style were predictive of depressive symptoms. For state anxiety, similar patterns were observed. Quality of life and social support were significantly associated with lower anxiety. Carriers maintained higher knowledge compared to those testing negative, and were more engaged in screening. In summary, most individuals adapt to genetic test results over the long term and continue to engage in screening. A subgroup, including some non-carriers, may require added psychosocial support. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Source

Buchanan D.D.,Familial Cancer Laboratory | Buchanan D.D.,University of Queensland | Sweet K.,Ohio State University | Drini M.,Canberra Hospital | And 37 more authors.
PLoS ONE | Year: 2010

Background: Patients with multiple serrated polyps are at an increased risk for developing colorectal cancer (CRC). Recent reports have linked cigarette smoking with the subset of CRC that develops from serrated polyps. The aim of this work therefore was to investigate the association between smoking and the risk of CRC in high-risk genetics clinic patients presenting with multiple serrated polyps. Methods and Findings: We identified 151 Caucasian individuals with multiple serrated polyps including at least 5 outside the rectum, and classified patients into non-smokers, current or former smokers at the time of initial diagnosis of polyposis. Cases were individuals with multiple serrated polyps who presented with CRC. Controls were individuals with multiple serrated polyps and no CRC. Multivariate logistic regression was performed to estimate associations between smoking and CRC with adjustment for age at first presentation, sex and co-existing traditional adenomas, a feature that has been consistently linked with CRC risk in patients with multiple serrated polyps. CRC was present in 56 (37%) individuals at presentation. Patients with at least one adenoma were 4 times more likely to present with CRC compared with patients without adenomas (OR = 4.09; 95%CI 1.27 to 13.14; P = 0.02). For females, the odds of CRC decreased by 90% in current smokers as compared to never smokers (OR = 0.10; 95%CI 0.02 to 0.47; P =0.004) after adjusting for age and adenomas. For males, there was no relationship between current smoking and CRC. There was no statistical evidence of an association between former smoking and CRC for both sexes. Conclusion: A decreased odds for CRC was identified in females with multiple serrated polyps who currently smoke, independent of age and the presence of a traditional adenoma. Investigations into the biological basis for these observations could lead to non-smoking-related therapies being developed to decrease the risk of CRC and colectomy in these patients. © 2010 Buchanan et al. Source

Rosty C.,Level Inc | Rosty C.,University of Queensland | Rosty C.,Queensland Institute of Medical Research | Buchanan D.D.,Queensland Institute of Medical Research | And 23 more authors.
American Journal of Surgical Pathology | Year: 2012

Serrated polyposis syndrome (SPS), also known as hyperplastic polyposis, is a syndrome of unknown genetic basis defined by the occurrence of multiple serrated polyps in the large intestine and associated with an increased risk of colorectal cancer (CRC). There are a variety of SPS presentations, which may encompass a continuum of phenotypes modified by environmental and genetic factors. To explore the phenotype of SPS, we recorded the histologic and molecular characteristics of multiple colorectal polyps in patients with SPS recruited between 2000 and 2010 from genetics clinics in Australia, New Zealand, Canada, and the United States. Three specialist gastrointestinal pathologists reviewed the polyps, which they classified into conventional adenomas or serrated polyps, with various subtypes, according to the current World Health Organization criteria. Mutations in BRAF and KRAS and mismatch repair protein expression were determined in a subset of polyps. A total of 100 patients were selected for the study, of whom 58 were female and 42 were male. The total polyp count per patient ranged from 6 to 150 (median 30). The vast majority of patients (89%) had polyposis affecting the entire large intestine. From this cohort, 406 polyps were reviewed. Most of the polyps (83%) were serrated polyps: microvesicular hyperplastic polyps (HP) (n=156), goblet cell HP (n=25), sessile serrated adenoma/polyps (SSA/P) (n=110), SSA/P with cytologic dysplasia (n=28), and traditional serrated adenomas (n=18). A further 69 polyps were conventional adenomas. BRAF mutation was mainly detected in SSA/P with dysplasia (95%), SSA/P (85%), microvesicular HP (76%), and traditional serrated adenoma (54%), whereas KRAS mutation was present mainly in goblet cell HP (50%) and in tubulovillous adenoma (45%). Four of 6 SSA/Ps with high-grade dysplasia showed loss of MLH1/PMS2 expression. CRC was diagnosed in 39 patients who were more often found to have a conventional adenoma compared with patients without CRC (P=0.003). Patients with SPS referred to genetics clinics had a pancolonic disease with a high polyp burden and a high rate of BRAF mutation. The occurrence of CRC was associated with the presence of conventional adenoma. © 2012 by Lippincott Williams & Wilkins. Source

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