Excellent response to olaparib in metastatic HR-positive, HER2-negative breast cancer with BRIP1 mutation

Breast cancer gene 1 interacting protein (BRIP1) also known as Fanconi Anemia complementation group J (FANCJ) and breast cancer gene 1-associated C-terminal helicase-1 (BACH1) encodes a protein belonging to the RecQ DEAH helicase family required for DNA repair and the maintenance of chromosomal stability. 1 Koboldt D.C. Fulton R.S. et al. Cancer Genome Atlas NetworkComprehensive molecular portraits of human breast tumours. Nature. 2012; 490: 61-70 Crossref PubMed Scopus (8502) Google Scholar Alterations in BRIP1 result in defects in DNA damage repair mechanisms, what can lead to sporadic breast cancer. According to The Cancer Genome Atlas dataset, BRIP1 mutation is observed in 2% of invasive breast cancers. 1 Koboldt D.C. Fulton R.S. et al. Cancer Genome Atlas NetworkComprehensive molecular portraits of human breast tumours. Nature. 2012; 490: 61-70 Crossref PubMed Scopus (8502) Google Scholar It was shown that higher BRIP1 expression correlates with poor overall survival (OS) of breast cancer patients. 2 Khan U. Khan MdS. Prognostic value estimation of BRIP1 in breast cancer by exploiting transcriptomics data through bioinformatics approaches. Bioinform Biol Insights. 2021; 1511779322211055892 Crossref Scopus (8) Google Scholar