AB026. SOH24AB_045. Knowledge of BRCA1/BRCA2 pathogenic variant status in a non-Ashkenazi Jewish cohort is important for survival
Clinical Breast Session

AB026. SOH24AB_045. Knowledge of BRCA1/BRCA2 pathogenic variant status in a non-Ashkenazi Jewish cohort is important for survival

Aisling Hegarty1, Gavin Dowling1,2, Sandra Hembrecht2, Dylan Viani Walsh2, Gerard Hill1, Aoife O’Brien3, Fiona Bane1, Sinead Cocchiglia1, Lance Hudson1,3, Trudi Roche1,3, Sorcha O’Grady1,2, Eithne Downey3, Lisa Bradley4, Andrew Green4,5, Deirdre Duke3, Michael Allen3, Colm Power3, Reem Salman3, Leonie Young1, Arnold David Konrad Hill1,3

1Royal College of Surgeons Ireland, Department of Surgery, The Smurfit Building, Beaumont Hospital, Dublin, Ireland; 2Royal College of Surgeons Ireland, University of Medicine and Health Sciences, Department of Surgery, Dublin, Ireland; 3Breast Department, Beaumont Hospital, Dublin, Ireland; 4Department of Clinical Genetics, Children’s Health Ireland (CHI), Dublin, Ireland; 5School Of Medicine & Medical Sciences, Health Sciences Centre, University College Dublin, Dublin, Ireland

Background: BRCA1/2 pathogenic variant carriers have a higher lifetime risk of developing breast cancer. Risk-management options include breast surveillance or bilateral prophylactic mastectomy (BPM). The aim of this study was to assess if knowledge of one’s pathogenic variant status is important for survival.

Methods: A single-centre, retrospective observational cohort study was undertaken. Patients identified as having a high risk of breast cancer based on family history between January 2008–2023 were included (n=1,411). Patients were identified based on their lifetime risk of disease being calculated as greater than 30% using the Tyrer-Cuzick model (IBIS tool), no known BRCA pathogenic variant in their family and no personal history of disease.

Results: Breast cancer developed in 168 patients. Patients who underwent BPM did not develop breast cancer (n=77). Most BRCA carriers did not receive genetic testing until after their breast cancer diagnosis (147/168, 87.5%). Patients with a known BRCA germline pathogenic variant, identified prior to breast cancer diagnosis, were significantly more likely to have an immediate contralateral prophylactic mastectomy, which was prognostically favourable (P=0.023). Kaplan-Meier survival analysis illustrated that patients in the known genetic status cohort had improved overall survival (OS) (log rank P=0.043). At a median follow-up of 6.17 years, all patients in this cohort were still alive.

Conclusions: A more widespread approach to testing should be considered in this non-Ashkenazi Jewish high-risk family history cohort to optimise and personalise the risk-management options available to each patient. Knowledge of BRCA1/BRCA2 carrier status in a non-Ashkenazi Jewish cohort is important for survival.

Keywords: BRCA; breast cancer; genetic testing; risk reduction surgery; surgical oncology

Acknowledgments

Funding: None.

Footnote

Conflicts of Interest: The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

doi: 10.21037/map-24-ab026
Cite this abstract as: Hegarty A, Dowling G, Hembrecht S, Viani Walsh D, Hill G, O’Brien A, Bane F, Cocchiglia S, Hudson L, Roche T, O’Grady S, Downey E, Bradley L, Green A, Duke D, Allen M, Power C, Salman R, Young L, Hill ADK. AB026. SOH24AB_045. Knowledge of BRCA1/BRCA2 pathogenic variant status in a non-Ashkenazi Jewish cohort is important for survival. Mesentery Peritoneum 2024;8:AB026.

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