Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offers germline and somatic testing to patients with certain cancers or rare and inherited diseases, or, in some cases, to their relatives. This review summarises current UK guidelines for risk-reducing surgical interventions available for individuals with no personal history of cancer, who are determined to carry germline pathogenic variants. An electronic literature search of NICE guidelines and PubMed citable articles was performed. NICE guidelines are available for bilateral mastectomy and are currently in development for risk-reducing bilateral salpingo-oophorectomy. Guidelines developed with affiliation to, or through relevant British Surgical Societies or international consensus, are available for risk-reducing hysterectomy, polypectomy, gastrectomy, and thyroidectomy. There is a disparity in the development and distribution of national guidelines for interventions amongst tumour types. Whilst we are focusing on UK guidelines, we anticipate they will be relevant much more generally and so of interest to a wider audience including where there are no national guidelines to refer to. We suggest that, as genetic testing becomes rapidly more accessible, guideline development for interventions should be more closely aligned to those for testing.

Haim-Munk syndrome and Papillon-Lefèvre syndrome are rare genodermatoses caused by mutations in the cathepsin C (CTSC) gene. They both cause palmoplantar keratoderma and are associated with periodontitis. Existing literature reports additional Haim-Munk syndrome characteristics including pes planus, radiographic deformity of the fingers and arachnodactyly, whilst Papillon-Lefèvre syndrome is associated with intracranial calcification and susceptibility to infection. We report a variant in CTSC which has previously been described in Papillon-Lefèvre syndrome but has not previously been reported in Haim-Munk syndrome. Our patient’s presentation supports the suggestion that Papillon-Lefèvre syndrome and Haim-Munk syndrome are a spectrum of diseases which are caused by CTSC mutations, with significant overlap in their phenotypic features. This genetic report adds to the literature to improve our understanding of these rare, clinically related syndromes.