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 whether BRIP1 mutations contribute to breast cancer susceptibility in our population and, if so, to investigate the impact of such mutation (s) on BRIP1 function.

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 deficient in Fanconi...

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 FANCJ, BRIP1/BACH1 is a tumor suppressor gene identified through mutations in breast cancer and Fanconi anemia, a childhood cancer .

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 checkpoint functions1,2,6,7.

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 Brip1 and to determine...

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 cancer predisposing gene. We aimed to assess whether BRIP1 mutations contribute to breast cancer susceptibility in our population and, if so, to investigate the effect of such ...

Inheriting bi-allelic mutations in some breast cancer genes, which are underlined, results in Fanconi anemia associated with complementation groups BRCA2/FANCD1, PALB2/FANCN and BACH1/FANCJ/BRIP1. Highlighting the importance of these hereditary breast cancer genes in DNA damage repair, mutations in some of these genes also contribute to Fanconi ...

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 estimated to confer a relative risk for breast cancer of 2.0 in western populations.

10 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+ other human diseases resulting from repeat expansion, a process that has been shown to require key mismatch repair (MMR) factors. FANCJ, a DNA helicase involved in unwinding unusual DNA secondary structures, has been ...

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 Breast Cancer. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).