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The BRCA1-like profile is not associated with survival benefit for a non-myeloablative, intensified regimen in this study population. Considering the limited cohort size, capecitabine might have additional benefit for triple negative breast cancer patients patients.
Ovarian response to stimulation, expressed as the number of mature oocytes, was reduced in BRCA1 but not in BRCA2 mutation carriers. Although oocyte yield was in correspondence to a normal response in all subgroups, this finding points to a possible negative influence of the BRCA1 gene on ovarian reserve
These results will form the basis for a larger randomized trial (LIBRE-2) with an estimated sample size of 600 BRCA1 and BRCA2 (显示 BRCA2 蛋白) mutation carriers aiming at improvement of BMI, aerobic and maximal exercise capacity and adherence to a Mediterranean diet
The authors assessed whether BRCA1 promoter hypermethylation like mutation was associated with increased survival or increased sensitivity to platinum chemotherapy. However the results showed that neither outcomes were met
Data show that breast cancer BRCA1 carriers have distinctive tumour features as compared to BRCA2 carriers and non-carriers. The majority of BRCA1 carriers were diagnosed with tumour size >20 mm, poor differentiation tumour and negative oestrogen and progesterone hormonal receptors.
These results reveal two distinct fork restart pathways, which are antagonistically controlled by 53BP1 and BRCA1 in a double-strand DNA break repair-independent manner.
loss of BRCA1 function results in an increase in UBE2C (显示 UBE2C 蛋白) expression and chemical resistance to doxorubicin in breast cancer cells.
We describe twenty-nine novel BRCA1 and BRCA2 (显示 BRCA2 蛋白) variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC).
The work-flow represents a robust and easy-to-use method for full BRCA1/2 screening, which can be easily implemented in routine diagnostic testing and adapted to genes other than BRCA1/2.
Statistically significant correlations were identified between breast cancer and 3 not described previously single nucleotide polymorphisms of homologous recombination repair genes BRCA1 and BRCA2 (显示 BRCA2 蛋白): rs59004709, rs4986852 and rs1799950.
Investigation on BRCA1 SNPs and its effects on mastitis in Chinese commercial cattle.
The gene-specific SNP marker analysis showed a significant association of BRCA1 C28300A with milk somatic cell scores.
In general, OC use, childbearing and breastfeeding do not differ between BRCA1/2 carriers and non-carriers with ovarian cancer. However, the effects of tubal ligation may differ between BRCA1 carriers and non-carriers.
Bovine BRCA1 was phosphorylated and nuclear speckling was enhanced in response to DNA-damaging agents.These results provide evidence that phosphorylation and nuclear relocalization are highly conserved features of the BRCA1 response to genotoxic stress.
Consensus-based recombinant adeno-associated virus-BRCA1 knock out virus vectors failed to induce BRCA1 knockout in Gottingen fibroblasts.
Recent work in a TP53(-/-)BRCA1-mutant murine breast cancer model indicates that double blockade with two immune checkpoint inhibitors increases the number of tumor-infiltrating lymphocytes and overall survival after DNA damaging chemotherapy, whereas single blockade does not
Data indicate the importance of breast cancer 1 protein (BRCA1)/breast cancer 2 protein (BRCA2 (显示 BRCA2 蛋白)) function in cranial neural crest cells (CNCCs) during craniofacial skeletal formation.
ATM (显示 ATM 蛋白) has a role in homology-directed repair (HDR (显示 GATA3 蛋白)) independent of the BRCA1-53BP1 (显示 TP53BP1 蛋白) antagonism; its HDR (显示 GATA3 蛋白) function can become critical in certain contexts
BRCA1, but not BRCA2, suppresses the formation of tandem duplications at a site-specific chromosomal replication fork barrier imposed by the binding of Tus proteins to an array of Ter sites. BRCA1 has no equivalent role at chromosomal double-stranded DNA breaks, indicating that tandem duplications form specifically at stalled forks.
Loss of p16INK4 protein (p16) transforms breast cancer 1 (Brca1)-deficient mammary epithelial cell (MEC (显示 CCL28 蛋白)) and induces mammary tumors.
Brca1 is necessary for hematopoietic stem cells maintenance and normal hematopoiesis and that distinct mutations lead to different degrees of hematopoietic dysfunction.
TGFbeta (显示 TGFB1 蛋白) stabilized the abundance of BRCA1 by reducing the abundance of microRNA-182 (miR (显示 MLXIP 蛋白)-182). Ectopic expression of BRCA1 or antagonism of miR (显示 MLXIP 蛋白)-182 in cultured TGFbeta (显示 TGFB1 蛋白)-deficient mammary epithelial cells restored luminal lineage commitment.
BRCA1 inactivation can increase expression of miR (显示 MLXIP 蛋白)-155, contributing to cardiac hypertrophy. And Rev produces their beneficial effects partially by down-regulating miR (显示 MLXIP 蛋白)-155 expression, which might be a novel strategy for treatment of cardiac hypertrophy.
both murine Brca1185stop tumors and human BRCA1185delAG breast cancer cells express a new gene domain-less (RING-less) BRCA1 protein that mediated resistance to homologous recombination deficient-targeted therapies
Genomic instability can be rescued by deletion of Trp53bp1 (显示 TP53BP1 蛋白), encoding the DNA damage response factor 53BP1 (显示 TP53BP1 蛋白); mice expressing RING-less BRCA1 do not show an increased susceptibility to tumors in the absence of 53BP1 (显示 TP53BP1 蛋白); Genomic instability in cells expressing RING-less BRCA1 correlates with loss of BARD1 (显示 BARD1 蛋白) and a defect in restart of replication forks after hydroxyurea treatment
MRN (Mre11 (显示 MRE11A 蛋白), Rad50 (显示 RAD50 蛋白), and Nbs1 (显示 NLRP2 蛋白)) complex, CtIP (显示 RBBP8 蛋白), and BRCA1 are required for both the removal of Top2 (显示 TOP2 蛋白)-DNA adducts and the subsequent resection of Top2 (显示 TOP2 蛋白)-adducted DSB ends.
BRCA1-dependent helicase unloading is a critical, early event in DNA interstrand crosslink repair.
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.
BRCA1/BRCA2-containing complex, subunit 1
, RING finger protein 53
, breast and ovarian cancer susceptibility protein 1
, breast and ovarian cancer sususceptibility protein 1
, breast cancer type 1 susceptibility protein
, protein phosphatase 1, regulatory subunit 53
, BRCA1 homologue
, breast cancer type 1 susceptibility protein homolog
, breast cancer 1, early onset
, BRCA1 homolog
, breast and ovarian cancer susceptibility protein
, breast cancer associated 1