Exploration of possible association of <i>BRIP1</i> pathogenic variants with central nervous system cancers in an institutional cohort.

Abstract

<i>BRIP1</i> (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 <i>BRIP1</i> 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 <i>BRIP1</i> pathogenic variants (PVs) (0.6%); 1 of 2 germline-tested individuals had a <i>BRIP1</i> PGV. Though <i>BRIP1</i> PVs are rare in CNS tumours, a substantial proportion of <i>BRIP1</i> carriers have a positive family history. Obtaining and documenting the clinical and pathological characteristics of reported CNS tumours in <i>BRIP1</i> individuals and families is key to exploring a possible association.