Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
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SWI/SNF chromatin remodeling complexes and cancerThe hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic TypeLoss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type.No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT): A review of 47 cases.SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeBiallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma.Diagnostic value of next-generation sequencing in an unusual sphenoid tumor.Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4).SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.Next-generation sequencing: a change of paradigm in molecular diagnostic validation.
P2860
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P2860
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
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article científic
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Familial rhabdoid tumour 'avan ...... ome sequencing and back again.
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Familial rhabdoid tumour 'avan ...... ome sequencing and back again.
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Familial rhabdoid tumour 'avan ...... ome sequencing and back again.
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P2093
P2860
P50
P356
P1476
Familial rhabdoid tumour 'avan ...... ome sequencing and back again.
@en
P2093
David G Huntsman
David Yandell
Emilie Lalonde
Jacek Majewski
James C Nicholson
Jian Zhang
Leora Witkowski
Luca Cavallone
Marc D Tischkowitz
Matthew J Murray
P2860
P356
10.1002/PATH.4225
P577
2013-09-01T00:00:00Z