Detection of genetic tumour predisposition syndromes using electronic health records.

Detection of genetic tumour predisposition syndromes using electronic health records. Br J Dermatol. 2020 May 14;: Authors: Cook S, Wilson V, Ness J, Burn J, Husain A, Rajan N Abstract The restricted tumour repertoire of certain genetic skin tumour syndromes, such as CYLD cutaneous syndrome (CCS), is well recognised.1 Patients with CCS develop multiple benign cylindromas and spiradenomas, a presentation of skin appendageal tumours recognised to be exclusively associated with CYLD loss. Consequently, pathology coding records, which capture tumour level data, can be interrogated to detect patients who may have undiagnosed CCS based on the presentation of multiple CCS specific tumours over time. PMID: 32407560 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research