Surgical Decision Making and Management of CHEK2 and PALB2 Breast Cancer Mutation Carriers

Ashley Zhang; Seth Aschen; Maira Pires; Gillian O'Connell; Lisa Newman; David Otterburn; Leslie Cohen

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Ashley Zhang ⁽¹⁾, Seth Aschen ⁽²⁾, Maira Pires ⁽³⁾, Gillian O'Connell ⁽⁴⁾, Lisa Newman ⁽⁵⁾, David Otterburn ⁽⁶⁾, Leslie Cohen ⁽⁷⁾

(1) Division of Plastic and Reconstructive Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(2) Division of Plastic and Reconstructive Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(3) Department of Breast Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(4) Division of Plastic and Reconstructive Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(5) Department of Breast Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(6) Division of Plastic and Reconstructive Surgery, Weill Cornell Medical College, New York, NY, USA, United States,

(7) Division of Plastic and Reconstructive Surgery, Weill Cornell Medical College, New York, NY, USA, United States

Issue
Vol. 12 No. 2 (2025): In-Press for May 2025

Keywords:

chek2, palb2, breast cancer, decision making, breast cancer mutations, pathogenic variations, genetics, breast cancer genetics

No galleys available

Abstract

Background: Next-generation genetic sequencing has increasingly identified carriers of breast cancer susceptibility genes CHEK2 and PALB2. Despite the growing population of non-BRCA mutation carriers, literature on surgical decision-making in this cohort remains limited.

Study Design: A retrospective cross-sectional study was conducted on patients diagnosed with CHEK2 or PALB2 genetic mutations between 2016 and 2024 at a breast clinic at a tertiary-care hospital. Demographics, surgical interventions, and complications were analyzed.

Results: Of over 4000 patients who were tested for a full breast cancer genetic panel, 132 CHEK2 and/or PALB2 positive patients were included. 74.2% had a personal history of breast cancer and 25.8% were tested as part of screening. Genetic diagnosis awareness significantly impacted surgical choices, with 36.7% of patients aware of their diagnosis choosing a mastectomy over breast-conserving therapy, compared to 15.7% of patients unaware of their diagnosis. There was a 23.0% conversion rate from BCT to mastectomy. 12 patients had autologous breast reconstruction and 28 had implant-based reconstruction. The major complication rate was 7.5%, and the minor complication rate was 12.5%.

Conclusion: Patients with CHEK2 or PALB2 genetic diagnoses have a lifetime breast cancer risk of up to 40%; high rates of cancer recurrence; and are six-times more likely to convert to a mastectomy after BCT compared to the general population. It is imperative that CHEK2/PALB2 carriers are informed about all surgical options—including contralateral prophylactic mastectomy, bilateral risk-reducing mastectomy, and breast reconstruction. Breast reconstruction is safe in this patient population, and early consultations are important for optimizing reconstructive outcomes.