Ask about this productRelated genes to: FANCE antibody
- Gene:
- FANCE NIH gene
- Name:
- FA complementation group E
- Previous symbol:
- FACE
- Synonyms:
- FAE
- Chromosome:
- 6p21.31
- Locus Type:
- gene with protein product
- Date approved:
- 1996-04-09
- Date modifiied:
- 2019-04-23
Related products to: FANCE antibody
Related articles to: FANCE antibody
- Two decades ago, two papers in Nature described how PARP inhibitors selectively killed cells deficient in the BRCA1 or BRCA2 tumour suppressor genes, observations that led to the first clinically approved treatment of a cancer with a targeted therapy selected based on a germline biomarker. This work was recognized by Nature as one of the top 20 discoveries in cancer in the twenty-first century and provides a compelling example of leveraging fundamental biology discovery for patient benefit. For people with specific forms of breast, ovarian, prostate or pancreatic cancer, these discoveries changed their care, enabling the use of more effective and better tolerated targeted therapies that both improve survival and quality of life. This in turn extended the role of germline BRCA1 and BRCA2 mutation testing from determining risk in the unaffected, to being a companion diagnostic biomarker used to determine therapy for a patient with cancer. The significance of these discoveries spread beyond BRCA1-mutant and BRCA2-mutant cancers: the synthetic lethal concept of the BRCA-PARP inhibitor effect highlighted the myriad levels of functional redundancy that exist in tumour cells and stimulated the search for other tumour-specific synthetic lethal effects that could be exploited therapeutically. Here we distill the learnings from the past two decades in this field. - Source: PubMed
Publication date: 2026/05/06
Lord Christopher JTutt Andrew N JAshworth Alan - Germline genetic susceptibility to pediatric acute lymphoblastic leukemia (pALL) remains incompletely characterized across the allelic spectrum, including ultra-rare, high-penetrance cancer predisposing variants (CPVs). - Source: PubMed
Publication date: 2026/05/06
Meng XiaoxiChen ChengQin NaMulder Heather LEaston JohnEdmonson Michael NRusch MichaelZhang JinghuiMyers Jason RSpector Logan GTurcotte Lucie MChanock Stephen JYang Jun JNichols Kim EPui Ching-HonXu JianMullighan Charles GHudson Melissa MNess Kirsten KArmstrong Gregory TChatterjee NilanjanIm CindyWang Zhaoming - As gene-panels expand to include candidate breast cancer predisposing genes (CPGs) involved in diverse DNA repair pathways, we investigated an index breast cancer (BC) case from 56 BRCA1/BRCA2 implicated high-risk hereditary BC families using gene-based approach for co-occurring, rare germline variants predicted to be damaging and clinically relevant in 276 DNA repair genes (DRGs). Using whole exome sequencing analyses, we identified a total of 287 variants in 55% of DRGs, of which 24 loss-of-function and 36 other predicted damaging variants were identified in 72% and 76% of BRCA1 and BRCA2 implicated cases, respectively. We also identified 60 variants of clinical interest in various known CPGs, including those involved in risk to other cancers, in 72% of BRCA1 and 60% of BRCA2 cases. The number of variants predicted to be deleterious in diverse DRGs raises questions about the interpretability of findings as panel testing expands beyond clinically established breast CPGs. - Source: PubMed
Publication date: 2026/05/05
Alenezi Wejdan MRecio NeilFierheller Caitlin TSerruya CorinneRevil TimothéeMes-Masson Anne-MarieProvencher DianeGreenwood Celia M TRagoussis JiannisTonin Patricia N - Pseudogenes have been regarded as nonfunctional byproducts of evolutionary processes. However, emerging evidence indicates that pseudogenes perform diverse biological roles in human physiology and pathology. We identified the pseudogene (), a fusion pseudogene derived from the tumor suppressor and ribosomal protein genes, as an immunoregulatory RNA in breast cancer. In this study, we show that expression varies across multiple cancer cell types, with no significant association with or somatic mutations in breast and ovarian tumors. Interestingly, inhibition elicits antitumor effects in multiple cancer cell types and preclinical tumor models through an antiviral defense mechanism. Loss of induces antiviral gene expression, promotes apoptosis, and increases sensitivity to chemotherapy in various cancer cells, without inducing apoptosis in nonmalignant cells. This antiviral response also enhances macrophage-mediated phagocytosis of -deficient cancer cells. Mechanistically, the majority of transcripts are circular RNAs and regulate NF-κB-driven antiviral gene expression. Furthermore, intratumoral expression of is elevated in tumor cells, compared to normal breast tissue, and its depletion significantly inhibits the growth of both primary and metastatic breast tumor organoids. Finally, in a humanized mouse model of breast cancer, loss stimulates antiviral gene expression and increases T cell infiltration into tumors. These findings support a critical role for in regulating innate immune defense and antitumor responses across cancer types, suggesting that targeting pseudogene-derived RNAs may offer innovative therapeutic strategies to enhance antitumor immunity in breast and other cancers. - Source: PubMed
Publication date: 2026/05/04
Han Yoo JaneZhang JingShariff MaryamWu SulinKhramtsova GalinaNguyen Long ChiPeiffer Daniel SLi NanshengLewicka AnnaMoore MatthewPiccirilli Joseph AOlopade Olufunmilayo I - Germline pathogenic variants in BRCA1 and BRCA2 confer disproportionately elevated cancer risks in breast and ovarian tissues, yet the basis for this tissue specificity remains incompletely understood. Here, we integrate bulk-tumor aneuploidy analysis across 340,824 cancer cases from three independent cohorts (TCGA, ICGC PCAWG, and FoundationCore) with single-cell whole-genome sequencing from two independent studies to investigate whether tissue-specific patterns of chromosomal deletion contribute to this phenomenon. We find that breast and ovarian cancers are consistently enriched for deletions of chromosome arms 17q and 13q-harboring the and genes, respectively-relative to other solid tumor types, and that mutational timing analysis independently places these deletions among the earliest somatic events in these cancers. Phylogenetic reconstruction of single-cell data reveals that in pre-malignant breast tissue from germline carriers, chr17q and chr13q deletions appear as localized subclonal events within small clades against a largely diploid background. In established malignancies, these same deletions are found within dominant clonal lineages accompanied by widespread genomic instability-consistent with clonal sweeps originating from early deletion events. These findings suggest that breast and ovarian cellular environments confer a selective advantage for chr17q and chr13q deletions, providing a mechanism that may contribute to the tissue-specific cancer risk observed in gBRCA1/2 carriers. - Source: PubMed
Publication date: 2026/04/21
Wang XinfengSisoudiya Saumya DBihie MahadGreatti YvesGrandvallet Contreras JuliánJun Tomi WSivakumar SmruthyHuang Kuan-Lin