Jacqueline Cappadocia, Kara N Maxwell, Katherine L Nathanson, Stephen Bagley, Jacquelyn Powers, Eitan Halper-Stromberg, Jacquelyn J Roth, Susan Domchek, Payal D Shah
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引用次数: 0
Abstract
BRIP1 (OMIM: 605882), associated with hereditary ovarian cancer, has recently been described in association with central nervous system (CNS) tumours. Institutional germline database review identified 43 families with BRIP1 pathogenic germline variants (PGVs); 7 families (16.3%) reported 8 CNS tumours. Somatic database review identified 1143 individuals with CNS tumours who underwent somatic sequencing, of whom 7 had BRIP1 pathogenic variants (PVs) (0.6%); 1 of 2 germline-tested individuals had a BRIP1 PGV. Though BRIP1 PVs are rare in CNS tumours, a substantial proportion of BRIP1 carriers have a positive family history. Obtaining and documenting the clinical and pathological characteristics of reported CNS tumours in BRIP1 individuals and families is key to exploring a possible association.
期刊介绍：
Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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