We found a different spectrum of NF2 somatic mutations in the schwannomatosis-associated schwannomas compared to the germinal mutations found in NF2 patients, as already demonstrated in sporadic schwannomas. The preponderance of indels as somatic mutations and of single mucleotide substitutions as germline ones, suggest the existence of distinct mechanisms of mutagenesis during mitosis and meiosis.
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients / Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 27:(2019), pp. 450-450.
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients
Paganini, I;Capone, GL;Putignano, A;Sestini, R;Gensini, F;Porfirio, B;Marozza, A;Papi, L
2019
Abstract
We found a different spectrum of NF2 somatic mutations in the schwannomatosis-associated schwannomas compared to the germinal mutations found in NF2 patients, as already demonstrated in sporadic schwannomas. The preponderance of indels as somatic mutations and of single mucleotide substitutions as germline ones, suggest the existence of distinct mechanisms of mutagenesis during mitosis and meiosis.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.