Ask about this productRelated genes to: RAD51L1 antibody
- Gene:
- RAD51B NIH gene
- Name:
- RAD51 paralog B
- Previous symbol:
- RAD51L1
- Synonyms:
- REC2, hREC2, R51H2
- Chromosome:
- 14q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 1997-09-12
- Date modifiied:
- 2016-10-05
Related products to: RAD51L1 antibody
Related articles to: RAD51L1 antibody
- We sought to characterize outcome associations of poly ADP-ribose polymerase inhibitors (PARPi) in patients with ovarian cancer (OVCA) whose cancers contain homozygous loss (deletions) of homologous recombination repair (HRR) pathway genes, an alteration class not uniformly reported on clinical testing and not susceptible to acquired resistance via secondary reversion mutations. - Source: PubMed
Publication date: 2026/05/14
Swisher Elizabeth MKonecny GottfriedCohen JoshuaColon-Otero GerardoDanziger NatalieLin Douglas ILi GeraldQuintanilha Julia C FDecker BrennanRoss Jeffrey SGearing MaryBaker KathrynScott TakaraPoyser LynetteVallejos PaulElvin Julia AGraf Ryon P - The RAD51 recombinase is central to repair of DNA damage arising from stalled or collapsed replication forks and DNA double strand breaks. Its essential role is revealed by the fact that this function evolved in bacteria but was retained in eukaryotes. In humans some of the RAD51 functions have been relegated to several paralogues which evolved by gene duplication. In addition to mutations, most cancers are also characterized by increased chromosomal instability manifesting as translocations, deletions, insertions, and other more complex forms of chromosomal re-arrangements. Given the central role of RAD51 in protecting against chromosomal instability it stands to reason that RAD51 mutations that alter its function should register in cancer cells. However, pan-cancer analyses of analyzed cancer genomes show a marked absence of RAD51 loss of function mutations leading to a so-called "RAD51 paradox": increased chromosomal instability despite normal RAD51 function. One hypothesis is that mutations in the RAD51 paralogues may contribute to the genomic instability, meaning that a lack of mutations in RAD51 may be compensated by an increase of mutations in the paralogues. We queried analyzed cancer genomes from COSMIC and mapped all mutations in RAD51 and its paralogues. This revealed an increase in RAD51B, RAD51C and RAD51D paralogue mutations in human cancers. We used established algorithms to determine the probability that any mutation may affect enzyme function. Although, we did not find many "driver" mutations, numerous paralogue mutations were pathogenic or likely to destabilize enzyme function. In silico 3D structure analysis was then used to analyze the potential effect of some of these mutations on protein structure. Gene expression analysis did not reveal any changes in paralogue expression levels. Further, an evolutionary analysis did not uncover any selective pressure for mutations in RAD51 and its paralogues. A comparison of mutations reported on COSMIC with those reported on ClinVar revealed that many mutations primarily in RAD51C and RAD51D are also hereditary. Thus, it appears that an apparent low level of RAD51 mutations in cancer cells is compensated by an increase in paralogues mutations. - Source: PubMed
Publication date: 2026/05/14
Valentine Anna LHuth Isabella LDuff Nika MRabbani Aisha ZDonahue Kateri NBush Wesley ABouley Renee APetreaca Ruben C - Early-onset Breast Cancer (EOBC), defined as breast cancer diagnosed at or before the age of 40 years, represents a small but clinically aggressive subset of breast cancer cases. While pathogenic variants in BRCA1/2 might explain some of this risk, many EOBC cases remain unexplained. This study aimed to investigate rare germline variants in DNA repair genes that may contribute to EOBC among BRCA1/2-negative patients of Arab ancestry. We performed germline whole exome sequencing (WES) on a cohort of 79 BRCA1/2 negative EOBC patients (median age 28 years, range 13-39). Rare variants (minor allele frequency < 1%) in 217 curated DNA repair genes were filtered and prioritized using CADD and REVEL scores. Protein structure modeling was conducted for selected novel variants to evaluate their potential impact on protein function. Seventy rare deleterious variants were identified across the analyzed DNA repair genes. Among these, five novel variants were identified in DNA2, CLK2, EME2, SWI5 and RAD51B, the latter harboring a frameshift variant indicative of loss of function. Structured modeling revealed that three novel missense variants - DNA2, CLK2 and EME2 - were predicted to introduce localized structural changes that may affect protein function. Several patients carried multiple deleterious variants, suggesting a possible polygenic contribution to EOBC predisposition. These findings expand the spectrum of rare DNA repair gene variants observed in BRCA1/2-negative early-onset breast cancer and provide candidate variants for further investigation, rather than establishing definitive causal associations. - Source: PubMed
Publication date: 2026/05/07
Bu RongSiraj Abdul KAbdul Razzaq Eman AIqbal KaleemParvathareddy Sandeep KumarAzam SaudQadri ZeeshanThangavel SaravananHaqawi WaelAl-Kuraya Khawla S - HELQ is a 3'-5' DNA helicase whose loss sensitizes cells to DNA-damaging agents, particularly DNA crosslinkers. HELQ interacts with the RAD51 paralog complex RAD51B-RAD51C-RAD51D-XRCC2 (BCDX2), a key mediator of replication fork reversal. Using DNA fiber assays, we show that HELQ and BCDX2 act epistatically to slow replication fork progression under replication stress. Because fork reversal transiently regresses nascent strands into a four-way junction and reduces net DNA synthesis, this fork slowing provides a functional readout of fork reversal. Directly supporting this model, electron microscopy reveals that reversed fork structures are reduced in HELQ-knockout cells. Consistent with a role in fork reversal, HELQ deletion suppresses nascent strand degradation when BRCA2- or FANCD2-dependent fork protection is lost. Mechanistically, biochemical reconstitution shows that HELQ is stimulated by RPA on fork substrates containing a leading strand gap, and these findings are consistent with the cell-based DNA fiber assays. Together, these results identify HELQ as a specialized regulator of replication fork remodeling that promotes fork reversal through the BCDX2 pathway. - Source: PubMed
Dunbayev YerkinChen Yen-JuSassi LorenzoLee Eun ARa Jae SunChoi MoonjungMukherjee AnirbanVasquez Karen MCostanzo VincenzoChi PeterTakata Kei-Ichi - Patients with clinical characteristics of increased cancer susceptibility without an identified genetic lesion are regularly seen in clinics. Association studies and matched normal/tumour sequencing have advanced the discovery of Cancer Susceptibility Genes (CSGs), with limitations when used independently. We reasoned that combining these strategies alongside mutational signatures and clinical data could improve CSGs identification. - Source: PubMed
Publication date: 2026/04/08
Camacho-Valenzuela JoséMatis ThibautRoca CarlaCuamatzi Flores Jorge LuisHamel NancyRivera BarbaraGravel SimonPolak PazRobles-Espinoza Carla DanielaFoulkes William D