CDH1 mutation-related breast cancer with multistage breast surgery-a case report

The gene CDH1 is a tumour suppressor gene. When a pathogenic variant is acquired, it loses its function and can be associated with diffuse gastric and lobular breast cancer. The incidence in the general population is not high.

We present the case of a patient with diagnosed lobular breast cancer with the CDH1 mutation. In the described patient, breast cancer had been recognized before the pathogenic variant was identified; nevertheless, consequent medical procedures were used according to the guidelines. The treatment of the described patient was multistage, and both surgery and radiotherapy were used. The patient has remained under observation after the treatment. No signs of any local recurrence or dissemination of breast cancer have been observed. The cosmetic effect is satisfactory. The patient is professionally active and runs marathons.

Nowadays, the choice of treatment for patients with breast cancer also depends on genetic factors. It is connected with surgical and systemic therapies. Genetic factors should be known prior to the treatment, but CDH1 is not included in breast cancer panels. Very often, women with a mutation-related breast cancer decide on mastectomy, even after a successful breast-conserving therapy. As we show, previous radiotherapy is not a contraindication for the aesthetic surgery. Cosmetic effects, even after multistage procedures, are overall positive.