Article
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers.
Nature communications - 27 Jul 2020
Glodzik Dominik, Bosch Ana, Hartman Johan, Aine Mattias, Vallon-Christersson Johan, Reuterswärd Christel, Karlsson Anna, Mitra Shamik, Niméus Emma, Holm Karolina, Häkkinen Jari, Hegardt Cecilia, Saal Lao H, Larsson Christer, Malmberg Martin, Rydén Lisa, Ehinger Anna, Loman Niklas, Kvist Anders, Ehrencrona Hans, Nik-Zainal Serena, Borg Åke, Staaf Johan
Abstract excerpt
Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations in key pathway genes. We investigated the frequency of BRCA1 promoter hypermethylation in 237 triple-negative breast cancers (TNBCs) from a population-based study using reported whole genome and RNA sequencing data, complemented with analyses of genetic, epigenetic,...
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