Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations

Colin Bergstrom, Colton Pence, Jordan Berg, Natalia Partain, Navid Sadeghi, Caitlin Mauer, Sara Pirzadeh-Miller, Ang Gao, Hsiao Li, Nisha Unni, Samira Syed

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Introduction: The moderate-penetrance germline mutations ATM, CHEK2, and PALB2 are implicated in an increased risk of the development of breast cancer. Whether these mutations provide clinical utility to guide treatment strategies and prognosis remains unknown. Methods: A retrospective case–control study from a tertiary institution compared patients with stage 0–III breast cancer, and positive for ATM, CHEK2, or PALB2 mutations, with a matched cohort selected by randomization and negative for mutations. Data acquisition included demographics, histopathologic, treatment, and clinical outcome variables. Results: A total of 145 patients with breast cancer (144 female and 1 male) were analyzed—74 mutation-positive patients (24 ATM, 26 CHEK2, 24 PALB2) and 71 mutation-negative patients. Mutation-positive patients compared with mutation-negative patients had increased family history of breast cancer (79.7 vs. 52.9%, p < 0.001) and tumor size > 2.0 cm (63.1% vs. 42.3%, p = 0.015). Patients with prior knowledge of mutational status were more likely to proceed with total mastectomy and prophylactic mastectomy (74.5% vs. 25.5%, p < 0.02; and 65.5% vs. 34.5%, p < 0.001, respectively). The unadjusted recurrence rate was higher in mutation-positive patients compared with mutation-negative patients (24.3 vs. 8.5%, p = 0.01), although mutation status was not predictive for recurrence in Cox regression analysis. Conclusions: Patients positive for ATM, CHEK2, or PALB2 mutations had increased tumor size and were more likely to undergo extensive surgeries. Mutation status was not predictive of recurrence, although this lack of effect may have been mitigated by lower rates of recurrence in those who pursued total mastectomy. Further studies are needed to confirm these findings.

Original languageEnglish (US)
Pages (from-to)3383-3393
Number of pages11
JournalAnnals of Surgical Oncology
Issue number6
StatePublished - Jun 2021

ASJC Scopus subject areas

  • Surgery
  • Oncology


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