Article
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.
Cell death & disease - 17 May 2023
Sachsenweger Juliane, Jansche Rebecca, Merk Tatjana, Heitmeir Benedikt, Deniz Miriam, Faust Ulrike, Roggia Cristiana, Tzschach Andreas, Schroeder Christopher, Riess Angelika, Pospiech Helmut, Peltoketo Hellevi, Pylkäs Katri, Winqvist Robert, Wiesmüller Lisa
Abstract excerpt
It has been well-established that mutations in BRCA1 and BRCA2, compromising functions in DNA double-strand break repair (DSBR), confer hereditary breast and ovarian cancer risk. Importantly, mutations in these genes explain only a minor fraction of the hereditary risk and of the subset of DSBR deficient tumors. Our screening efforts identified two truncating germline mutations in the gene encoding the BRCA1...
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