1. Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing.
- Author
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Gallon, R., Kibbi, N., Cook, S., Santibanez‐Koref, M., Jackson, M.S., Burn, J., and Rajan, N.
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HEREDITARY nonpolyposis colorectal cancer , *GENETIC testing , *GERM cells , *TUMORS , *SMALL intestine cancer , *COLORECTAL cancer - Abstract
Dear Editor, Lynch syndrome (LS) is an adult-onset cancer predisposition caused by a germline pathogenic variant affecting one of four mismatch repair (MMR) genes ( I MLH1 i , I MSH2 i , I MSH6 i or I PMS2 i ). Patients diagnosed with both sebaceous tumours and one or more LS-related visceral malignancies are given a clinical diagnosis of Muir-Torre syndrome (MTS), a variant of LS most often caused by germline pathogenic variants in I MSH2 i . In agreement with Owen I et al i .,4 we found a lower sensitivity and specificity (81-0% and 77-2%, respectively) of LS screening by tumour MMR deficiency testing in sebaceous tumours than in other Lynch-spectrum tumour types.2 GLO:F03/01nov21:bjd20522-fig-0001.jpg PHOTO (COLOR): 1 Frequency of Lynch syndrome (LS) among patients with different types of tumour. [Extracted from the article]
- Published
- 2021
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