Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results’ interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.
- lobular breast cancer
- hereditary cancer
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BB and VG contributed equally.
Contributors GC and JF contributed equally. Concept and design: GC, BB, DM, VG. Supervisor board: PV, VG, MI, FR, FC, RS, CLV, GP. Iconography and graphic design: FS, JF, SM, EDC. Acquisition of data, analysis and interpretation of data, critical revision of the manuscript for important intellectual content, final approval of manuscript: all authors. Drafting of the manuscript: GC, RLG, JF, CLV, AT, AMDS, IF, EP, CT, KM, RK, FDL with input of all authors. Editorial assistance: MGV, EP.
Funding This manuscript was supported by the Italian Ministry of Health (Understanding how CDH1 germline mutations affect hereditary lobular breast cancer).
Competing interests None declared.
Patient consent Not required.
Provenance and peer review Commissioned; externally peer reviewed.