FANCE Peptide
- Known as:
- FANCE Peptide
- Catalog number:
- 42-799p
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- FANCE Peptide
Related genes to: FANCE Peptide
- 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 Peptide
Related articles to: FANCE Peptide
- Defects in homologous recombination repair genes contribute to hereditary cancer susceptibility beyond BRCA1 and BRCA2, yet clinical interpretation of intermediate-penetrance genes remains challenging. We retrospectively evaluated unrelated carriers of pathogenic or likely pathogenic germline variants in RAD51C, RAD51D, and BRIP1 identified through hereditary cancer multigene panel testing in a real-world cohort of approximately 8000 individuals. Fifty-two carriers were included (RAD51C n = 14, RAD51D n = 15, BRIP1 n = 23). Ovarian cancer represented the predominant malignancy, followed by breast cancer, consistent with established gene-phenotype associations. Most detected variants were predicted loss-of-function alterations. Six previously unreported variants were identified, expanding the mutational spectrum of RAD51C and RAD51D. Recurrent variants were observed in unrelated individuals, including BRIP1 c.2992_2995del, which demonstrated higher frequency in regional population data compared with global datasets, suggesting possible population enrichment. Additional pathogenic variants in ATM and BRCA1 were identified in two individuals, highlighting the complexity of multigene testing. Although non-classical tumour types were occasionally observed, including colorectal cancer in BRIP1 carriers, causal associations remain uncertain. These findings emphasize the importance of population-aware variant interpretation and individualized genetic counseling aligned with contemporary ACMG and ESMO recommendations for moderate-penetrance hereditary cancer genes. - Source: PubMed
Publication date: 2026/06/19
Özdemir-Pehlivan ZeynepBüke AfifeÇevik-Demir EzgiSaat HanifeBahsi TahaYıldırım Özgen AhmetErdem Haktan Bağış - Accurate detection of BRCA1 and BRCA2 variants is essential for breast cancer diagnosis. However, the large size of these genes poses challenges for comprehensive analysis using short-read sequencing, which is generally limited to coding regions and may miss deep intronic and structural variants. This study evaluated the performance of Oxford Nanopore long-read sequencing (ONT-LRS) for comprehensive BRCA1 and BRCA2 analysis and compared its diagnostic yield with Ion Torrent sequencing. In this retrospective study, DNA samples from 27 individuals with breast cancer were initially analysed using Ion Torrent sequencing according to standard clinical workflows. Full BRCA1 and BRCA2 genes were subsequently amplified by long-range PCR and sequenced on R10.4.1 flow cells. Variants identified by ONT-LRS were compared with those detected by Ion Torrent. High concordance was observed between ONT-LRS and Ion Torrent for exonic single-nucleotide variants. Importantly, ONT-LRS identified additional variants not detected by Ion Torrent, including a deep intronic variant predicted to alter splicing and one structural variant. This study suggest that ONT-LRS extends the diagnostic capabilities of short-read sequencing by enabling accurate detection of BRCA1 and BRCA2 deep intronic and structural variants that may otherwise be overlooked, with potential implications for patient management and family counselling. - Source: PubMed
Publication date: 2026/06/19
El Makhzen NadaEl Hejjioui BrahimElMakhzen BadreddineBouramtane AbdelhamidBennis SanaeBouguenouch LailaAbriel Hugues - Hereditary cancer genetic testing has been routinely recommended for individuals whose personal or family history meets the National Comprehensive Cancer Network® (NCCN®) guidelines. Midstate Radiology Associates (MRA) implemented universal risk screening in 2021 using the Ambry CARE Program®. This digital tool collects personal and family history, applies NCCN® guidelines, and identifies patients meeting criteria for hereditary breast, ovarian, pancreatic, prostate cancer, Lynch syndrome, and familial adenomatous polyposis. However, many individuals fall outside these guidelines or have limited knowledge of their family history. To address this gap, all patients were offered genetic testing regardless of guideline eligibility. This study analyzes four years of data from 15 MRA sites throughout Connecticut, where all were offered hereditary cancer genetic testing after risk assessment. - Source: PubMed
Cooke JennaBurgess Meghan EFecteau Heather - Germline mutations in genes governing DNA repair, cell cycle regulation, and epigenetic modification are now recognized as common etiological factors for both cancer predisposition and reproductive dysfunction. This reveals a profound intersection between reproductive biology and oncogenesis. - Source: PubMed
Publication date: 2026/06/02
Huang ZhengbinAbbas MusavirHussain AnsarLong MingMuzammal MuhammadSong Kaiyong - Brain metastases (BM) require a multidisciplinary treatment approach combining surgery, radiotherapy, and systemic therapy. While current guidelines recommend the analysis of established cancer driver genes in BM tissue, little is known about its real-life implementation and relevance on oncological treatment strategies. This retrospective multicenter study includes patients with BM from melanoma, lung and breast cancer operated between 2010 and 2022. Clinical records were evaluated for BM molecular analyses of predefined cancer drivers and their discordance to extracranial tumor sites, that is, ALK, BRAF, EGFR, KRAS, NTRK for lung, HER2, estrogen/progesterone receptor, BRCA1/2 for breast cancer and BRAF, KIT, NRAS among others for melanoma. Adjustment of systemic therapies based on BM molecular profiles was analyzed. Among 1431 BMs screened for availability of molecular analysis, molecular profiling was performed at least partially in 723 BMs (51%). In cases with matched extracranial tumor samples (n = 276), discordant alterations were found in 18% of lung, 4.7% of melanoma and 45% of breast cancer BMs. Molecular BM analyses informed systemic therapy adjustments in 13%-27% of patients depending on the primary tumor. Overall survival was significantly better in patients who underwent BM profiling, especially when operated in recensst years (median 19.3 vs. 9.9 months; p < 0.0001) and in patients with breast cancer who had a change in systemic therapies upon BM profiling (p = 0.0085). In conclusion, molecular profiling of BM allows selecting available treatment options for a substantial subset of patients. This study underscores the need for more systematic molecular testing in BM patients to guide systemic treatment decisions. - Source: PubMed
Publication date: 2026/06/18
Nikolaeva MariaBellomo JacopoGönel MeltemStumpo VittorioStaartjes Victor EgonVasella FlavioAkeret KevinSagerer AndréZeitlberger Anna MariaWasilewski DavidKrämer ChristopherKönig SvenOnken JuliaJuratli TareqKöpp AlexanderReimann ReginaCzabanka MarcusVajkoczy PeterEyüpoglu Ilker YBozinov OliverWeller MichaelLe Rhun EmilieRegli LucaSerra CarloNeidert Marian CVoglis Stefanos