Lua Eiriksson1, Melyssa Aronson2, Blaise Clarke3, Golnessa Mojtahedi4, Christine Massey5, Amit M Oza6, Steven Gallinger7, Aaron Pollett8, Helen Mackay9, Marcus Q Bernardini10, Sarah E Ferguson11. 1. Division of Gynecologic Oncology, Juravinski Hospital and Cancer Centre, Department of Obstetrics and Gynecology, McMaster University, 699 Concession St., Hamilton, Ontario L8V 5C2, Canada. Electronic address: lua.eiriksson@jcc.hhsc.ca. 2. Zane Cohen Centre for Digestive Diseases, Familial GI Cancer Registry, Mount Sinai Hospital, 600 University Ave., Toronto, Ontario M5G 1X5, Canada. Electronic address: maronson@mtsinai.on.ca. 3. Division of Pathology, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada. Electronic address: blaise.clarke@uhn.on.ca. 4. Division of Gynecologic Oncology, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada. Electronic address: golnessa.mojtahedi@nyu.edu. 5. Department of Biostatistics, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada. Electronic address: cmssyc@gmail.com. 6. Division of Medical Oncology, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada. Electronic address: amit.oza@uhn.ca. 7. Division of General Surgery, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada; Familial GI Cancer Registry, Mount Sinai Hospital, 600 University Ave., Toronto, Ontario M5G 1X5, Canada. Electronic address: steven.gallinger@uhn.ca. 8. Pathology and Laboratory Medicine, Mount Sinai Hospital, 600 University Ave., Toronto, Ontario M5G 1X5, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario M5S 2J7, Canada. Electronic address: apollett@mtsinai.on.ca. 9. Division of Medical Oncology, Princess Margaret Hospital/University Hospital Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada. Electronic address: helen.mackay@uhn.ca. 10. Division of Gynecologic Oncology, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada; Department of Obstetrics and Gynecology, University of Toronto, 27 King's College Circle, Toronto, Ontario M5S 2J7, Canada. Electronic address: marcus.bernardini@uhn.on.ca. 11. Division of Gynecologic Oncology, Princess Margaret Hospital/University Health Network, 610 University Ave., Toronto, Ontario M5G 2M9, Canada; Department of Obstetrics and Gynecology, University of Toronto, 27 King's College Circle, Toronto, Ontario M5S 2J7, Canada. Electronic address: sarah.ferguson@uhn.on.ca.
Abstract
OBJECTIVE: The brief Family History Questionnaire (bFHQ) was developed to identify endometrial cancer patients whose family histories suggest Lynch syndrome (LS). We compared the bFHQ, extended Family History Questionnaire (eFHQ) and dictated medical records (DMRs) to determine which family history screening strategy is superior in identifying LS in unselected women with newly diagnosed endometrial cancer that have undergone universal germline testing. METHODS: Prospective cohort study recruited women with newly diagnosed endometrial cancer to evaluate screening strategies to identify LS. Participants completed bFHQ and eFHQ, had tumor assessed with immunohistochemistry (IHC) for mismatch repair proteins (MMR) and micro-satellite instability testing and underwent universal germline testing for LS. The sensitivity, specificity, positive and negative predictive values (PPV, NPV) were compared between the family history screening strategies as well as IHC. RESULTS: 118 of 182 eligible patients (65%) consented; 87 patients (74%) were evaluable with both family history and germline mutation status. Median age was 61years (range 26-91). All 7 patients with confirmed LS were correctly identified by bFHQ, compared to 5 and 4 by eFHQ and DMR, respectively. The sensitivity, specificity, PPV and NPV values of bFHQ were 100%, 76.5%, 25.9% and 100%, respectively, performing similar to IHC testing. While eFHQ was more specific than bFHQ (86.7% vs. 76.5%, P=0.007), 2 cases of LS were missed. CONCLUSIONS: The patient-administered bFHQ effectively identified women with confirmed LS and is a good screening tool to triage women with endometrial cancer for further genetic assessment.
OBJECTIVE: The brief Family History Questionnaire (bFHQ) was developed to identify endometrial cancerpatients whose family histories suggest Lynch syndrome (LS). We compared the bFHQ, extended Family History Questionnaire (eFHQ) and dictated medical records (DMRs) to determine which family history screening strategy is superior in identifying LS in unselected women with newly diagnosed endometrial cancer that have undergone universal germline testing. METHODS: Prospective cohort study recruited women with newly diagnosed endometrial cancer to evaluate screening strategies to identify LS. Participants completed bFHQ and eFHQ, had tumor assessed with immunohistochemistry (IHC) for mismatch repair proteins (MMR) and micro-satellite instability testing and underwent universal germline testing for LS. The sensitivity, specificity, positive and negative predictive values (PPV, NPV) were compared between the family history screening strategies as well as IHC. RESULTS: 118 of 182 eligible patients (65%) consented; 87 patients (74%) were evaluable with both family history and germline mutation status. Median age was 61years (range 26-91). All 7 patients with confirmed LS were correctly identified by bFHQ, compared to 5 and 4 by eFHQ and DMR, respectively. The sensitivity, specificity, PPV and NPV values of bFHQ were 100%, 76.5%, 25.9% and 100%, respectively, performing similar to IHC testing. While eFHQ was more specific than bFHQ (86.7% vs. 76.5%, P=0.007), 2 cases of LS were missed. CONCLUSIONS: The patient-administered bFHQ effectively identified women with confirmed LS and is a good screening tool to triage women with endometrial cancer for further genetic assessment.
Authors: Petra W C Lee; Angela C Bedard; Setareh Samimi; Vivienne K Beard; Quan Hong; James E J Bedard; Blake Gilks; David F Schaeffer; Robert Wolber; Janice S Kwon; Howard J Lim; Sophie Sun; Kasmintan A Schrader Journal: Cancer Med Date: 2020-07-23 Impact factor: 4.452
Authors: Soyoun Rachel Kim; Alicia Tone; Raymond H Kim; Matthew Cesari; Blaise A Clarke; Lua Eiriksson; Tae Hart; Melyssa Aronson; Spring Holter; Alice Lytwyn; Manjula Maganti; Leslie Oldfield; Steven Gallinger; Marcus Q Bernardini; Amit M Oza; Bojana Djordjevic; Jordan Lerner-Ellis; Emily Van de Laar; Danielle Vicus; Trevor J Pugh; Aaron Pollett; Sarah E Ferguson Journal: Cancer Date: 2020-08-18 Impact factor: 6.860
Authors: Soyoun Rachel Kim; Alicia Tone; Raymond H Kim; Matthew Cesari; Blaise A Clarke; Lua Eiriksson; Tae L Hart; Melyssa Aronson; Spring Holter; Alice Lytwyn; Manjula Maganti; Leslie Oldfield; Steven Gallinger; Marcus Q Bernardini; Amit M Oza; Bojana Djordjevic; Jordan Lerner-Ellis; Emily Van de Laar; Danielle Vicus; Trevor J Pugh; Aaron Pollett; Sarah E Ferguson Journal: Cancer Date: 2021-05-13 Impact factor: 6.860