Objective:

To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population.

Case presentation:

A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free.

Conclusion:

There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.

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