Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers.
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ABSTRACT:
SUBMITTER: Glodzik D
PROVIDER: S-EPMC7385112 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers.
Glodzik Dominik D Bosch Ana A Hartman Johan J Aine Mattias M Vallon-Christersson Johan J Reuterswärd Christel C Karlsson Anna A Mitra Shamik S Niméus Emma E Holm Karolina K Häkkinen Jari J Hegardt Cecilia C Saal Lao H LH Larsson Christer C Malmberg Martin M Rydén Lisa L Ehinger Anna A Loman Niklas N Kvist Anders A Ehrencrona Hans H Nik-Zainal Serena S Borg Åke Å Staaf Johan J
Nature communications 20200727 1
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, transcriptomic and immune infiltration phenotypes. We demonstrate that BRCA1 promoter ...[more]
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