Women with womb cancer are to be offered a genetic test for Lynch syndrome

2020 ◽  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test

scholarly journals Sharing Genetic Test Results in Lynch Syndrome: Communication With Close and Distant Relatives

2008 ◽  
Vol 6 (3) ◽  
pp. 333-338 ◽  
Author(s):  
Elena M. Stoffel ◽  
Beth Ford ◽  
Rowena C. Mercado ◽  
Darashana Punglia ◽  
Wendy Kohlmann ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results

Genealogical Tree Study as Screening Method in the Lynch Syndrome Prior to Genetic Test

2010 ◽  
Vol 33 (4) ◽  
pp. 376-380 ◽  
Author(s):  
Luciano Delgado-Plasencia ◽  
Vicente Medina-Arana ◽  
Ysamar Barrios del Pino ◽  
Antonia Fernández-Peralta ◽  
Juan J. González-Aguilera
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Screening Method ◽  
Genealogical Tree

scholarly journals Diagnostic Application ofhMLH1Methylation in Hereditary Non-Polyposis Colorectal Cancer

2004 ◽  
Vol 20 (4-5) ◽  
pp. 277-282 ◽  
Author(s):  
Nagahide Matsubara
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Screening Program ◽  
Immunohistochemical Analysis ◽  
Germline Mutations ◽  
Clinical Criteria ◽  
Pathological Analysis ◽  
Mmr Genes ◽  
New Strategy

Colorectal cancer (CRC) due to mismatch repair (MMR) defect has distinct characteristics among unselected CRCs. These CRCs are biologically less aggressive and, thus, showing better prognosis but less sensitive to the 5FU-based chemotherapy. CRCs with MMR defect derive from both hereditary and sporadic reasons. Germline inactivation of MMR genes (hMLH1, hMSH2, hMSH6, andhPMS2) underlies the hereditary CRC with MMR defect (Lynch syndrome) and epigenetic silencing ofhMLH1gene causes the sporadic CRC with MMR defect. Hereditary and sporadic CRC with MMR defect can be detectable by microsatellite instability (MSI) test or immunohistochemical analysis among general CRCs. Lynch syndrome can be diagnosed by the clinical criteria or by genetic test to detect pathogenic germline mutations in MMR genes. However, both clinical criteria and genetic test are inadequate for the diagnosis of Lynch syndrome. Since genetic test for the diagnosis of the Lynch syndrome is expensive and not always identify pathogenic germline mutations, effective and inexpensive screening program is desirable. Here we propose a possible application of methylation test combined with MSI or pathological analysis as an effective and a cost-saving new strategy for screening of Lynch syndrome.

scholarly journals Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome

2014 ◽  
Vol 87 (6) ◽  
pp. 525-532 ◽  
Author(s):  
M.J. Esplen ◽  
J. Wong ◽  
M. Aronson ◽  
K. Butler ◽  
H. Rothenmund ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Behavioral Adjustment ◽  
Test Results ◽  
Genetic Test Results

New genetic test for Lynch syndrome

2006 ◽  
Vol 7 (11) ◽  
pp. 892
Author(s):  
Cathel Kerr
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test

POST-GENETIC TEST RESULT ANXIETY AND DEPRESSION IN ONCOLOGIC PATIENTS SUSPECTED FOR HEREDITARY BREAST AND OVARY CANCER (HBOC) OR LYNCH SYNDROME (LS)

2021 ◽  
pp. 179-181
Author(s):  
Francisca Fernanda Barbosa Oliveira ◽  
Maria Júlia Barbosa Bezerra ◽  
Isabelle Joyce de Lima Silva-Fernandes ◽  
Deysi Viviana Tenazoa Wong ◽  
Paulo Goberlânio de Barros Silva ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Genetic Test ◽  
Anxiety And Depression ◽  
Genetic Test Result ◽  
Ovary Cancer ◽  
Oncologic Patients ◽  
Test Result

scholarly journals Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for 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 ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Risk Perception ◽  
Cancer Risk ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Results ◽  
Genetic Test Results ◽  
Test Result

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.

scholarly journals “Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Nicole den Elzen ◽  
Sharelle L. Joseland ◽  
Sibel Saya ◽  
Sowmya Jonnagadla ◽  
Joanne Isbister ◽  
...  
Keyword(s):  
Risk Management ◽  
Cancer Risk ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Cancer Genetics ◽  
Test Results ◽  
Genetic Test Results ◽  
Genetics Services ◽  
Management Advice ◽  
Cancer Risk Management

Abstract Background A diagnosis of suspected Lynch syndrome (SLS) is given when a tumour displays characteristics consistent with Lynch syndrome (LS), but no germline pathogenic variant is identified. This inconclusive diagnosis results in uncertainty around appropriate cancer risk management. This qualitative study explored how patients with CRC interpret and respond to an SLS diagnosis. Methods Semi-structured telephone interviews were conducted with 15 patients with CRC who received an SLS diagnosis, recruited from cancer genetics services across Australia. Interviews were transcribed verbatim and analysed using thematic analysis. Participant responses were compared with appointment summary letters from cancer genetics services. Results Participants’ interpretations of genetic test results were found to vary widely. While this variation often aligned with variation in interpretations by cancer genetics services, participants also had difficulties with the complexity and recall of genetic test results. Participants had a range of psychological responses to the uncertainty that their results presented, from relief to disappointment and doubt. Cancer risk perceptions also varied widely, with participants’ interpretations of their genetic test results just one of several influencing factors. Despite this variability, almost all participants adhered to cancer risk management advice, although different participants received different advice. All participants also communicated any cancer risk management advice to first-degree relatives, motivated by protecting them, but information communicated was not always consistent with advice received. Conclusions Our study findings highlight the variability in patients’ interpretations of their diagnosis, cancer risk management and family communication when a diagnosis of SLS is received, and provide novel insights into how healthcare professionals can better support patients with SLS.

Predicting Lynch Syndrome Propensity to Cancer

2006 ◽  
Vol 39 (21) ◽  
pp. 52
Author(s):  
MARY ANN MOON
Keyword(s):  
Lynch Syndrome
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