CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas

In this study, issues relating to genetic counselling which are relevant to those undergoing genetic testing for CYLD mutations are explored. When a pathogenic mutation in CYLD is identified in a patient who meets the criteria for testing, they have the advantage of knowing their diagnosis is confirmed, and can use the information for their benefit. Patients who present with multiple skin appendage tumours but are not known to have a family history may not have considered that their tumours could represent an underlying genetic cause. The knowledge that this is so can help them anticipate the fact that further tumours may develop and prepare for necessary treatment. Testing is also facilitated for family members should they develop tumours. Individuals with a family history but no tumours themselves are aware they are at 50% risk of having a CYLD mutation. Having the test on a presymptomatic basis can reassure patients if they receive a negative result, and allow them to make decisions about the future if they know the result is positive. Although prenatal diagnostic testing is not offered for this condition, some patients with a CYLD mutation may choose to use the information to influence family planning decisions. Patients with a mutation may choose to be entered into appropriate clinical trials when the opportunity arises. Links UKGTN Homepage: http://ukgtn.nhs.uk/ UKGTN Test Dossier: http://ukgtn.nhs.uk/find-a-test/gene-dossiers/ UKGTN Testing Criteria: http://ukgtn.nhs...
Source: PLOS Currents Evidence on Genomic Tests - Category: Genetics & Stem Cells Authors: Source Type: research