Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A   & gt;  T: a case report

ConclusionsWe present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant ofRAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germlineRAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research