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.authorSexsmith, Laura
dc.contributor.examiningcommitteeEllison, Cynthia (Pathology) Dupré, Marc (Pathology) Singh, Harminder (Internal Medicine)en_US
dc.contributor.supervisorWightman, Robert (Pathology)en_US
dc.date.accessioned2017-06-02T15:30:48Z
dc.date.available2017-06-02T15:30:48Z
dc.date.issued2017
dc.degree.disciplinePathologyen_US
dc.degree.levelMaster of Science (M.Sc.)en_US
dc.description.abstractObjective: 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.description.noteOctober 2017en_US
dc.identifier.urihttp://hdl.handle.net/1993/32259
dc.language.isoengen_US
dc.rightsopen accessen_US
dc.subjectLynch syndromeen_US
dc.subjectScreening protocolen_US
dc.subjectMismatch repair proteinsen_US
dc.subjectManitobaen_US
dc.subjectColorectal canceren_US
dc.subjectCancer syndromeen_US
dc.subjectImmunohistochemistryen_US
dc.subjectMicrosatellite instabilityen_US
dc.subjectHNPCCen_US
dc.subjectHereditary nonpolyposis colon canceren_US
dc.titleImplementation of a lynch syndrome screening protocol on colorectal cancer patients 70 years of age and under: the initial Manitoba screening experienceen_US
dc.typemaster thesisen_US
local.subject.manitobayesen_US
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