Perceptions of Cancer Risks and Predictors of Colon and Endometrial Cancer Screening in Women Undergoing Genetic Testing for Lynch Syndrome

2008 ◽  
Vol 26 (6) ◽  
pp. 948-954 ◽  
Author(s):  
Donald W. Hadley ◽  
Jean F. Jenkins ◽  
Seth M. Steinberg ◽  
David Liewehr ◽  
Stephanie Moller ◽  
...  

Purpose Lynch syndrome poses multiple cancer risks, yet attention has focused on screening for colorectal cancer. Estimated risks for endometrial cancer equal risks for colorectal cancer. This study (1) evaluated women's perceived risks for cancers, (2) compared endometrial cancer screening and colonoscopy, and (3) identified predictors of screening before and after genetic testing. Patients and Methods Sixty-five adult women at 50% risk for carrying a cancer-predisposing mutation, without a history of endometrial cancer or hysterectomy, participated in genetic counseling and received unequivocal genetic test results for Lynch syndrome. Participants completed questionnaires before and after receipt of genetic results. Results Pretest, perceived risks for colon cancer were significantly higher than for extracolonic cancers (P < .0001). Use of colonoscopy was significantly higher (P = .006) than endometrial cancer screening. Post-test, carriers demonstrated a significant (P < .0001) increase in their perceived risk for extracolonic cancers and increased both colonoscopy (P = .79) and endometrial cancer screening (P = .11). Mutation status, age, perceived likelihood of carrying a mutation, and communication of test results to their physician independently predicted cancer screening at follow-up. Conclusion Women in families with Lynch syndrome are less aware of their risks for extracolonic cancers and undergo endometrial cancer screening significantly less often than colonoscopy before genetic counseling. Given the significantly increased risks for endometrial and ovarian cancers and the mortality associated with ovarian cancer, additional efforts to inform families of cancer risks and screening recommendations seem prudent. Physicians play a critical role in ensuring appropriate cancer screening in women with Lynch syndrome.

2009 ◽  
Vol 27 (24) ◽  
pp. 3981-3986 ◽  
Author(s):  
Shilpa Grover ◽  
Elena M. Stoffel ◽  
Rowena C. Mercado ◽  
Beth M. Ford ◽  
Wendy K. Kohlman ◽  
...  

Purpose Lynch syndrome is associated with inherited germline mutations in mismatch repair (MMR) genes. Genetic testing in high-risk individuals may yield indeterminate results if no mutation is found or if a mutation of unclear pathogenic significance is observed. There are limited data regarding how well patients with Lynch syndrome understand the clinical implications of genetic test results. This study examines colorectal cancer (CRC) risk perception in individuals tested for MMR mutations and identifies the factors associated with an appropriate interpretation of their cancer risk. Patients and Methods A total of 159 individuals who met the Revised Bethesda Guidelines and had previously undergone genetic testing completed a questionnaire eliciting demographic data, cancer history, genetic test results, and an estimate of their CRC risk. Associations between clinical factors, genetic test results, and CRC risk perception were explored using multivariable analyses. Results Of the 100 individuals with a pathogenic mutation (true positive), 90 (90%) correctly estimated their CRC risk as “high” or “very high” compared with other individuals their age. However, only 23 (62%) of 37 individuals with an indeterminate genetic test result correctly estimated their risk. Individuals with a history of Lynch syndrome–associated cancer (odds ratio [OR], 0.1; 95% CI, 0.1 to 0.6) or indeterminate genetic test results (OR, 0.2; 95% CI, 0.1 to 0.6) were significantly less likely to estimate their CRC risk as increased. Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk.


2009 ◽  
Vol 136 (5) ◽  
pp. A-624
Author(s):  
Marvin Singh ◽  
Emily Singh ◽  
Heather Miller ◽  
Williamson Strum ◽  
Walter Coyle

2011 ◽  
Vol 7 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Marilyn Huang ◽  
Charlotte Sun ◽  
Stephanie Boyd-Rogers ◽  
Jennifer Burzawa ◽  
Andrea Milbourne ◽  
...  

Combined colon and endometrial cancer screening is a patient-centered approach that is feasible and acceptable and may improve adherence to Lynch syndrome screening recommendations.


Medical Care ◽  
2016 ◽  
Vol 54 (5) ◽  
pp. 466-473 ◽  
Author(s):  
J. Frank Wharam ◽  
Fang Zhang ◽  
Bruce E. Landon ◽  
Robert LeCates ◽  
Stephen Soumerai ◽  
...  

2019 ◽  
Author(s):  
Frank Moriarty ◽  
Mark H. Ebell

AbstractObjectiveThis study compares the benefits and harms of aspirin for primary prevention before and after widespread use of statins and colorectal cancer screening.MethodsWe compared studies of aspirin for primary prevention that recruited patients from 2005 onward with previous individual patient meta-analyses that recruited patients from 1978 to 2002. Data for contemporary studies were synthesized using random-effects models. We report vascular (major adverse cardiovascular events [MACE], myocardial infarction [MI], stroke), bleeding, cancer, and mortality outcomes.ResultsThe IPD analyses of older studies included 95,456 patients for CV prevention and 25,270 for cancer mortality, while the four newer studies had 61,604 patients. Relative risks for vascular outcomes for older vs newer studies follow: MACE: 0.89 (95% CI 0.83-0.95) vs 0.93 (0.86-0.99); fatal hemorrhagic stroke: 1.73 (1.11-2.72) vs 1.06 (0.66-1.70); any ischemic stroke: 0.86 (0.74-1.00) vs 0.86 (0.75-0.98); any MI: 0.84 (0.77-0.92) vs 0.88 (0.77-1.00); and non-fatal MI: 0.79 (0.71-0.88) vs 0.94 (0.83-1.08). Cancer death was not significantly decreased in newer studies (RR 1.11, 0.92-1.34). Major hemorrhage was significantly increased for both older and newer studies (RR 1.48, 95% CI 1.25-1.76 vs 1.37, 95% CI 1.24-1.53). There was no effect in either group on all-cause mortality, cardiovascular mortality, fatal stroke, or fatal MI.ConclusionsIn the modern era characterized by widespread statin use and cancer screening, aspirin does not reduce the risk of non-fatal MI or cancer death. There are no mortality benefits and a significant risk of major hemorrhage. Aspirin should no longer be recommended for primary prevention.Summary of current evidence and what this study addsWhat is already known about this subject?The cumulative evidence for aspirin suggests a role in the primary prevention of cardiovascular disease, and in reducing cancer incidence and mortality.However most of the trials of aspirin for primary prevention were set in Europe and the United States and recruited patients prior to the year 2000.The benefits and harms of aspirin should be considered separately in studies performed in the eras before and after widespread use of statins and colorectal cancer screening.What does this study add?This study provides the most detailed summary to date of cardiac, stroke, bleeding, mortality and cancer outcomes to date in the literature.In trials of aspirin for primary prevention from 2005 onwards, aspirin reduced major adverse cardiovascular events but significantly increased the risk of bleeding, with no benefit for mortality or,Unlike older studies, there was no reduction in cancer mortality and non-fatal myocardial infarction.How does this impact on clinical practice?Our study suggests aspirin should not be recommended for primary prevention in the modern era.


2012 ◽  
Vol 104 (18) ◽  
pp. 1363-1372 ◽  
Author(s):  
A. K. Win ◽  
N. M. Lindor ◽  
J. P. Young ◽  
F. A. Macrae ◽  
G. P. Young ◽  
...  

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