Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) and SMARCA4-deficient undifferentiated uterine sarcoma (SMARCA4-DUS) are rare and aggressive tumors, primarily affecting pre- and perimenopausal women. Inactivating SMARCA4 mutations are thought to be the driving molecular events in the...

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Veröffentlicht in:	Gynecologic oncology 2020-04, Vol.157 (1), p.106-114
Hauptverfasser:	Connor, Yamicia D., Miao, Diana, Lin, Douglas I., Hayne, Cynthia, Howitt, Brooke E., Dalrymple, John L., DeLeonardis, Kimberly R., Hacker, Michele R., Esselen, Katharine M., Shea, Meghan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Carcinoma, Small Cell - genetics Carcinoma, Small Cell - pathology Carcinoma, Small Cell - therapy Cell Differentiation - physiology Cohort Studies DNA Helicases - deficiency DNA Helicases - genetics Female Germ-Line Mutation Germline Hereditary cancer syndromes Humans Hypercalcemia - genetics Hypercalcemia - pathology Hypercalcemia - therapy Middle Aged Nuclear Proteins - deficiency Nuclear Proteins - genetics Ovarian cancer Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Ovarian Neoplasms - therapy Prognosis Retrospective Studies Sarcoma - genetics Sarcoma - pathology Sarcoma - therapy SCCOHT SMARCA4 Transcription Factors - deficiency Transcription Factors - genetics Uterine Neoplasms - genetics Uterine Neoplasms - pathology Uterine Neoplasms - therapy Uterine sarcomas
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