Germline @entity8306 mutations have been described in individuals with @entity8524 ( @entity8524 ), @entity43 ( @entity10693 ), @entity242 , @entity1376 , @entity259 , @entity12878 and other neoplastic conditions. Early results from the International Ovarian and Testicular Stromal Tumor Registry show germline @entity8306 mutations in 48 % of @entity1 and @entity1 with @entity10693 . In this report, a young @entity1 presented with @entity43 . Four years later, she presented with @entity10693 . She was successfully treated for both @entity5 . Sequence results showed a germline intronic mutation in @entity8306 . This mutation results in an exact duplication of the six bases at the splice site at the intron 23 and exon 24 junction. Predicted improper splicing leads to inclusion of 10 bases of intronic sequence, frameshift and premature truncation of the protein disrupting the RNase IIIb domain. A second individual with @entity10693 was found to have an identical germline mutation. In each of the @entity43 , an additional somatic mutation in the RNase IIIb domain of @entity8306 was found. In rare @entity1 , germline intronic mutations in @entity8306 that are predicted to cause incorrect splicing can also contribute to the pathogenesis of @entity10693 .

XXXX related to intronic mutations in @entity8306 : a report from the international ovarian and testicular stromal @entity5 registry.

@entity43 :: ('MESH:D010051', 'Disease') :: ['ovarian tumors', 'ovarian Sertoli-Leydig cell tumor', 'ovarian undifferentiated sarcoma'] @entity1 :: ('9606', 'Species') :: ['women', 'woman', 'patients', 'girls'] @entity10693 :: ('MESH:D018310', 'Disease') :: ['SLCT'] @entity242 :: ('MESH:D012509', 'Disease') :: ['sarcomas'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignancies'] @entity8306 :: ('23405', 'Gene') :: ['DICER1'] @entity1376 :: ('MESH:C564546', 'Disease') :: ['multinodular goiter'] @entity12878 :: ('MESH:D018201', 'Disease') :: ['cystic nephroma'] @entity259 :: ('MESH:D013964', 'Disease') :: ['thyroid carcinoma'] @entity8524 :: ('MESH:C537516', 'Disease') :: ['pleuropulmonary blastoma', 'PPB']
@entity43 :: (MESH:D010051,Disease) :: ['Ovarian tumors']
