التفاصيل البيبلوغرافية
| العنوان: |
Muir–Torre syndrome: a case of unusual coexisting genetic mutations. |
| المؤلفون: |
Cino, D., Drumm, C., Sheahan, K., D'Arcy, C., Nolan, N., Hoti, E., Winter, D., O'Duffy, F., Dolan, R., Moriarty, B. |
| المصدر: |
Clinical & Experimental Dermatology; Mar2022, Vol. 47 Issue 3, p602-604, 3p, 2 Color Photographs |
| مصطلحات موضوعية: |
HEREDITARY nonpolyposis colorectal cancer, GENETIC mutation, ADENOMATOUS polyposis coli, SYNDROMES |
| مستخلص: |
To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS. Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. Patients with MTS commonly have germline mismatch repair mutations in I MLH1 i , I MSH2 i or I MSH6, i with a strong predominance in I MSH2 i . [Extracted from the article] |
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| قاعدة البيانات: |
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