BRIP1 (FANCJ / BACH1), which encodes a DNA helicase that interacts with BRCA1, has been suggested to be a low penetrance breast cancer predisposing gene. We aimed to assess …

2008年7月1日 · Germ-line BRIP1 mutations affecting the helicase domain activity have been identified in early onset breast cancer patients. In addition, BRIP1 was recently identified as …

2012年12月6日 · BRCA1-interacting protein 1 (BRIP1) or BRCA1-associated C-terminal helicase-1 (BACH1), located at chromosome 17q23, belongs to a DEAH helicase family. Also known as …

2005年8月21日 · BRIP1 (also called BACH1) is a DEAH helicase that interacts with the BRCT domain of BRCA1 (refs. 1–6) and has an important role in BRCA1-dependent DNA repair and …

2008年3月17日 · Mutations in the BRCA1-interacting DEAH helicase Brip1 confer an increased risk of breast cancer. In the present study we aimed to unravel the transcriptional control of …

2008年7月15日 · Purpose: BRCA1-interacting protein 1 (BRIP1; FANCJ/BACH1), which encodes a DNA helicase that interacts with BRCA1, has been suggested to be a low-penetrance breast …

Inheriting bi-allelic mutations in some breast cancer genes, which are underlined, results in Fanconi anemia associated with complementation groups BRCA2/FANCD1, PALB2/FANCN …

The proper interaction between BRIP1/BACH1 and BRCA1 protein has been found to be crucial for BRCA1-mediated DNA double-strand break repair and BRIP1/BACH1 mutations were …

12 小时之前 · Fragile X-related disorders (FXDs) are caused by the expansion of a CGG repeat tract in the 5’-UTR of the FMR1 gene. The expansion mechanism is likely shared with the 45+ …

2024年12月24日 · BRIP1 (BRCA1 Interacting DNA Helicase 1) is a Protein Coding gene. Diseases associated with BRIP1 include Fanconi Anemia, Complementation Group J and …