Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Moes Sosnowska, Joanna ^a   Szafron, Lukasz ^a   Nowakowska, Dorota ^a   Dansonka Mieszkowska, Agnieszka ^a   Budzilowska, Agnieszka ^a   Konopka, Bozena ^a   Plisiecka Halasa, Joanna ^a   Podgorska, Agnieszka ^a   Rzepecka, Iwona K ^a   Kupryjanczyk, Jolanta ^a  

^a INSTITUTE OF ONCOLOGY   (Poland)

Author keywords

Germline mutation; Immature teratoma; Ovarian cancer; Parotid gland carcinoma; Small cell carcinoma of hypercalcemic type; SMARCA4 mutation

Indexed keywords

BRG1 PROTEIN; DNA HELICASE; NUCLEAR PROTEIN; SMARCA4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE INSERTION; GERMLINE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; OVARIAN SMALL CELL CARCINOMA OF HYPERCALCEMIC TYPE; OVARY CARCINOMA; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SMALL CELL CARCINOMA; SMARCA4 GENE; YOUNG ADULT; CLASSIFICATION; GENETICS; HYPERCALCEMIA; INFANT; MALE; METABOLISM; MIDDLE AGED; MUTATION; OVARY TUMOR; PEDIGREE; PRESCHOOL CHILD;

ADULT; CARCINOMA, SMALL CELL; CHILD, PRESCHOOL; DNA HELICASES; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERCALCEMIA; INFANT; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; PEDIGREE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84928250646     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0247-4     Document Type: Article

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