Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?

Autor:	Podwika SE; Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, VA, United States., Jenkins TM; Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA, United States., Khokhar JK; Department of Pediatrics, University of Virginia, Charlottesville, VA, United States., Erickson SH; Department of Radiology, University of Virginia School of Medicine, Charlottesville, VA, United States., Modesitt SC; Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, VA, United States.; Division of Gynecologic Oncology, University of Virginia School of Medicine, Charlottesville, VA, United States.
Jazyk:	angličtina
Zdroj:	Gynecologic oncology reports [Gynecol Oncol Rep] 2020 Apr 07; Vol. 32, pp. 100569. Date of Electronic Publication: 2020 Apr 07 (Print Publication: 2020).
DOI:	10.1016/j.gore.2020.100569
Abstrakt:	Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive, and typically fatal ovarian cancer that primarily affects young women less than 40 years of age. It is caused by a pathogenic variant in the SMARCA4 gene, with nearly half of patients found to have germline pathogenic variants and the remainder demonstrating somatic SMARCA4 pathogenic variants. This case report discusses an illustrative case and explores the existing data and potential recommendations to optimize timing of genetic testing in family members, given the presence of a familial germline pathogenic variant. Competing Interests: The authors declared that there is no conflict of interest. (© 2020 The Authors.)
Databáze:	MEDLINE
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