『#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome』のカバーアート

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

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What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic Counseling Session Series! In this episode, cancer genetic counselor Connor Linehan and genetic counseling student Edith Atwerebour perform a mock cancer genetic counseling session. Edith plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose tumor showed loss of the MSH2 and MSH6 proteins. Although this tumor result raises suspicion for Lynch syndrome, it does not confirm that Patricia has an inherited cancer predisposition. Through this simulated session, Connor explains the difference between tumor and germline testing, reviews the pattern of cancer in Patricia’s family, and discusses how genetic testing could inform her future medical care and clarify cancer risks for her relatives. Patricia is particularly concerned about her kids. The session demonstrates how genetic counselors address the emotional impact of a possible hereditary cancer condition while explaining why testing and cancer screening are generally not recommended for children when the associated risks begin in adulthood. Previous installments of this series have explored prenatal, pediatric, cardiovascular, cancer, and teratogen genetic counseling. We hope these sessions help prospective and current genetic counseling students, and the general public, better understand what happens during a genetic counseling appointment. The Actors Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!) Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures. Mock Session Overview Establishing the purpose and structure of a cancer genetic counseling appointmentReviewing Patricia’s colon cancer diagnosis, treatment, and current healthAddressing Patricia’s concerns about her children early in the sessionConstructing and evaluating a three-generation cancer family historyIdentifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancersExplaining how genes normally help protect the body from developing cancerSporadic, familial, and hereditary explanations for cancerThe function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2How immunohistochemistry evaluates mismatch repair protein expression in a tumorWhy loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genesThe difference between tumor testing and germline genetic testingWhy abnormal tumor testing does not independently establish a Lynch syndrome diagnosisHow genetic changes confined to a tumor differ from inherited germline variantsWhy Patricia is the most informative person in her family to test firstThe option of using a multigene hereditary cancer panelPossible genetic testing results: positive, negative, and a variant of uncertain significanceWhat each potential result could mean for Patricia and her relativesWhy inheriting a pathogenic variant increases cancer risk but does not guarantee cancerWhy Patricia’s children would generally wait until adulthood for genetic testingHow a positive result could affect Patricia’s colon cancer surveillanceOther Lynch-associated cancer risks, including endometrial, ovarian, gastric, pancreatic, urinary tract, and additional cancersHow screening and risk-reducing options vary by the gene involvedCascade testing for Patricia’s mother, children, and other relatives if a familial variant is identifiedGenetic testing through a blood or saliva sampleThe expected turnaround time and how results would be reviewedPatricia’s decision about whether to proceed with germline genetic testing Lynch Syndrome Resources About Lynch Syndrome—Centers for Disease Control and PreventionGenetic Testing for Lynch Syndrome—Centers for Disease Control and PreventionManaging Cancer Risks Associated With Lynch Syndrome—Centers ...
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