Outcomes of screening endometrial cancer patients for Lynch syndrome by patient-administered checklist

Molly S. Daniels, Diana L. Urbauer, Azadeh Zangeneh, Brittany A.L. Batte, Katherine M. Dempsey, Karen H. Lu

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations

    Abstract

    Objective The aims of this study were to implement a patient-administered checklist designed to identify endometrial cancer patients at elevated risk for Lynch syndrome; measure subsequent genetic counseling and testing; and identify differences between those who attended genetic counseling and those who did not. Methods We developed a 4-item yes/no checklist of personal and family history risk factors for Lynch syndrome-associated endometrial cancer and recommended referral for genetic counseling for patients meeting any of the criteria. Retrospective chart review was performed to determine subsequent genetic counseling and testing outcomes over a 15 month period. Results 6/387 (1.6%) of endometrial cancer patients tested positive for a Lynch syndrome mutation. 4/24 (17%) of endometrial cancer patients who met referral criteria and attended genetic counseling tested positive. 38/70 (55%) of patients who met referral criteria were not seen for genetic counseling. Patients who were diagnosed with endometrial cancer at younger ages, who had primary surgery at our institution, or who met more than one referral criteria were more likely to be seen for genetic counseling. Conclusions Endometrial cancer patients who met referral criteria and attended genetic counseling comprised a population enriched for Lynch syndrome. This approach allowed Lynch syndrome evaluation resources to be targeted to a population of patients that is high risk and interested in the information. The referral rate of at-risk patients needs to be improved, and allocating resources towards this goal could increase the identification of Lynch syndrome while avoiding some of the pitfalls of universal screening.

    Original languageEnglish (US)
    Pages (from-to)619-623
    Number of pages5
    JournalGynecologic oncology
    Volume131
    Issue number3
    DOIs
    StatePublished - Dec 2013

    Keywords

    • Endometrial cancer
    • Genetic counseling
    • Genetic testing
    • Lynch syndrome

    ASJC Scopus subject areas

    • Oncology
    • Obstetrics and Gynecology

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