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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Date
2017
Authors
Sexsmith, Laura
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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.
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Keywords
Lynch syndrome, Screening protocol, Mismatch repair proteins, Manitoba, Colorectal cancer, Cancer syndrome, Immunohistochemistry, Microsatellite instability, HNPCC, Hereditary nonpolyposis colon cancer