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Implementation of a lynch syndrome screening protocol on colorectal cancer patients 70 years of age and under: the initial Manitoba screening experience

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dc.contributor.supervisor Wightman, Robert (Pathology) en_US
dc.contributor.author Sexsmith, Laura
dc.date.accessioned 2017-06-02T15:30:48Z
dc.date.available 2017-06-02T15:30:48Z
dc.date.issued 2017
dc.identifier.uri http://hdl.handle.net/1993/32259
dc.description.abstract Objective: Assess the ability of a Manitoba instituted Lynch Syndrome (LS), an autosomal dominant cancer syndrome, screening protocol to identify carriers in colorectal cancer (CRC) patients as compared to literature. Methods: Three hundred sixteen CRC resection tumour cases, patient age 70, were screened for a LS profile over 18 months. Immunohistochemistry for mismatch repair deficiency (MMRD), v-raf murine sarcoma viral oncogene homolog B1 sequencing, and microsatellite instability strategies were used to determine a likelihood of LS. Genetic counselling was recommended to suspected carriers. Results: MMRD was reported in 50(16%) cases; 3(0.9%) deficient (d) MutS homolog 6 (MSH6), 8(2.5%), d MutS protein homolog 2 (MSH2)/dMSH6, 5(1.6%) d Postmeiotic segregation increased 2 (PMS2), and 34(10.7%) d MutL homolog 1 (MLH1)/dPMS2. Seventeen patients underwent germline testing; 9(2.8%) LS mutations were identified. Conclusion: A confirmed LS mutation in 2.8% of cases is a percentage comparable to literature and supports continued protocol utilization. en_US
dc.rights info:eu-repo/semantics/openAccess
dc.subject Lynch syndrome en_US
dc.subject Screening protocol en_US
dc.subject Mismatch repair proteins en_US
dc.subject Manitoba en_US
dc.subject Colorectal cancer en_US
dc.subject Cancer syndrome en_US
dc.subject Immunohistochemistry en_US
dc.subject Microsatellite instability en_US
dc.subject HNPCC en_US
dc.subject Hereditary nonpolyposis colon cancer en_US
dc.title Implementation of a lynch syndrome screening protocol on colorectal cancer patients 70 years of age and under: the initial Manitoba screening experience en_US
dc.type info:eu-repo/semantics/masterThesis
dc.type master thesis en_US
dc.degree.discipline Pathology en_US
dc.contributor.examiningcommittee Ellison, Cynthia (Pathology) Dupré, Marc (Pathology) Singh, Harminder (Internal Medicine) en_US
dc.degree.level Master of Science (M.Sc.) en_US
dc.description.note October 2017 en_US


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