Abstract P4-02-28: Decisional challenges regarding risk-reducing surgery for BRCA1/2 and PALB2 women

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Abstract Women with hereditary breast and ovarian cancer syndrome (HBOC) have an increased risk of breast (BC) and ovarian cancer (OC) (absolute risk > 60% and 39–58% for BRCA1-2 respectively). Options for risk management include surveillance and risk reducing surgery (RRS). Previous data reported up to 90-95% BC risk reduction after RR bilateral breast surgery (RRBBS). RR salpingo-oophorectomy (RRSO), besides a risk reduction effect on OC, impacts on overall survival for BRCA1/2 women. At present, most early BC patients with a known BRCA1/2 or PALB2 pathogenic variant discuss breast RRS during their primary surgical plan. In this study we reviewed the Multidisciplinary Group (MD) decisions regarding cancer survivors (excluding BC women during primary treatment) and individuals with no previous cancer diagnosis, highly motivated for RRS. Between August 2020 - December 2023, 216 (215 F; 1 M) pts (median age 49 yrs) were discussed in the MD group. Genetic testing (GT): BRCA1/2 (69%), PALB2 (5%), other genes (19%) and GT not positive (7%). Cases: 114-healthy women, 97-CA survivors (6 with advanced CA) and 5 considered ineligible for RRS (1-NF1; 4-not positive GT). Healthy women: the MD group agreed on RRBBS, RRSO or both in 37, 42 and 35 cases, respectively. After further individual discussion 5 (14%RRBBS), 2 (5%RRSO) and 6 (17% both) women refused RRS. Four RRBBS women (3 BRCA2; 1 PALB2) were diagnosed with unilateral BC in the preoperative MRI, 1 RRSO women had OC diagnosis previous to surgery. Surgical specimens of interest (5): 1- lobular invasive BC (pT1bN0), 2- DCIS, 2- STIC (1 bilateral). Survivors were mostly (84/87%) BC survivors. While considering RRBBS, RRSO or both in 17, 49 and 25 cases, respectively, 2 (12%RRBBS), 2 (4%RRSO) and 3 (10% both) pts refused RRS. Regarding the 6 pts with advanced CA, 4 had sustained CR and RRS was agreed. Four pts (3 early BC) relapsed before RRS. Surgical specimens of interest (7): 1- multifocal BC (pT1cN1mi(sn)); 2- high grade serous fallopian tube CA (1 stage III); 4- STIC. The decision of RRS is a challenge that should measure the competing risks, either regarding age of primary prevention for healthy women, or regarding risk of relapse versus another cancer. This decision should be as tailored as possible to each patient, respecting their individuality and preferences. Citation Format: Catarina Relvas, Sofia Fragoso, Madalena Machado, Margarida Pereira, Bernardo Pereira, Berta Lopez, José Duarte, Sidónia Santos, Hugo Nunes, Fátima Vaz. Decisional challenges regarding risk-reducing surgery for BRCA1/2 and PALB2 women [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P4-02-28.

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