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    NBN nibrin [ Homo sapiens (human) ]

    Gene ID: 4683, updated on 13-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer.

    Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer.
    Zhong A, Cheng CS, Lu RQ, Guo L., Free PMC Article

    02/5/2024
    Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas.

    Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas.
    Reuss DE, Downing SM, Camacho CV, Wang YD, Piro RM, Herold-Mende C, Wang ZQ, Hofmann TG, Sahm F, von Deimling A, McKinnon PJ, Frappart PO.

    08/31/2023
    XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.

    XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.
    Nigam K, Gupta S, Singh N, Yadav SK, Sanyal S.

    08/10/2023
    The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

    The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
    Chrzanowska KH, Seemanova E, Varon R, Digweed M, Piekutowska-Abramczuk D, Sperling K, Seeman P., Free PMC Article

    02/28/2023
    NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.

    NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
    Belhadj S, Khurram A, Bandlamudi C, Palou-Márquez G, Ravichandran V, Steinsnyder Z, Wildman T, Catchings A, Kemel Y, Mukherjee S, Fesko B, Arora K, Mehine M, Dandiker S, Izhar A, Petrini J, Domchek S, Nathanson KL, Brower J, Couch F, Stadler Z, Robson M, Walsh M, Vijai J, Berger M, Supek F, Karam R, Topka S, Offit K., Free PMC Article

    01/21/2023
    MRN Complex and Cancer Risk: Old Bottles, New Wine.

    MRN Complex and Cancer Risk: Old Bottles, New Wine.
    Elkholi IE, Foulkes WD, Rivera B.

    04/2/2022
    Disruption of NBS1/MRN Complex Formation by E4orf3 Supports NF-kappaB That Licenses E1B55K-Deleted Adenovirus-Infected Cells to Accumulate DNA>4n.

    Disruption of NBS1/MRN Complex Formation by E4orf3 Supports NF-κB That Licenses E1B55K-Deleted Adenovirus-Infected Cells to Accumulate DNA>4n.
    Almuzaini N, Moore M, Robert-Guroff M, Thomas MA., Free PMC Article

    03/19/2022
    Structure of the human ATM kinase and mechanism of Nbs1 binding.

    Structure of the human ATM kinase and mechanism of Nbs1 binding.
    Warren C, Pavletich NP., Free PMC Article

    03/5/2022
    Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.

    Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.
    Shi Z, Lu L, Resurreccion WK, Yang W, Wei J, Wang Q, Engelmann V, Zheng SL, Cooney KA, Isaacs WB, Helfand BT, Lu J, Xu J.

    02/26/2022
    Association of DNA repair genes polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis.

    Association of DNA repair genes polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis.
    Zehtab S, Sattarzadeh Bardsiri M, Mirzaee Khalilabadi R, Ehsan M, Fatemi A., Free PMC Article

    02/19/2022
    NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

    NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.
    Tomioka K, Miyamoto T, Akutsu SN, Yanagihara H, Fujita K, Royba E, Tauchi H, Yamamoto T, Koh I, Hirata E, Kudo Y, Kobayashi M, Okada S, Matsuura S., Free PMC Article

    01/1/2022
    Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.

    Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.
    Abad E, Civit L, Potesil D, Zdrahal Z, Lyakhovich A.

    07/24/2021
    DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

    DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
    Fiévet A, Bellanger D, Zahed L, Burglen L, Derrien AC, Dubois d'Enghien C, Lespinasse J, Parfait B, Pedespan JM, Rieunier G, Stoppa-Lyonnet D, Stern MH.

    07/24/2021
    Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

    Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D., Free PMC Article

    06/19/2021
    Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

    Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
    Sharapova SO, Pashchenko OE, Bondarenko AV, Vakhlyarskaya SS, Prokofjeva T, Fedorova AS, Savchak I, Mareika Y, Valiev TT, Popa A, Tuzankina IA, Vlasova EV, Sakovich IS, Polyakova EA, Rumiantseva NV, Naumchik IV, Kulyova SA, Aleshkevich SN, Golovataya EI, Minakovskaya NV, Belevtsev MV, Latysheva EA, Latysheva TV, Beznoshchenko AG, Akopyan H, Makukh H, Kozlova O, Varabyou DS, Ballow M, Ong MS, Walter JE, Kondratenko IV, Kostyuchenko LV, Aleinikova OV., Free PMC Article

    06/19/2021
    A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

    A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
    Rahman S, Canny MD, Buschmann TA, Latham MP., Free PMC Article

    05/15/2021
    Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.

    Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
    Wokołorczyk D, Kluźniak W, Huzarski T, Gronwald J, Szymiczek A, Rusak B, Stempa K, Gliniewicz K, Kashyap A, Morawska S, Dębniak T, Jakubowska A, Szwiec M, Domagała P, Lubiński J, Narod SA, Akbari MR, Cybulski C, Polish Hereditary Prostate Cancer Consortium.

    04/17/2021
    The MRE11 complex: A versatile toolkit for the repair of broken DNA.

    The MRE11 complex: A versatile toolkit for the repair of broken DNA.
    Reginato G, Cejka P.

    03/13/2021
    Human ABCB1 with an ABCB11-like degenerate nucleotide binding site maintains transport activity by avoiding nucleotide occlusion.

    Human ABCB1 with an ABCB11-like degenerate nucleotide binding site maintains transport activity by avoiding nucleotide occlusion.
    Goda K, Dönmez-Cakil Y, Tarapcsák S, Szalóki G, Szöllősi D, Parveen Z, Türk D, Szakács G, Chiba P, Stockner T., Free PMC Article

    01/2/2021
    NBS1 interacts with HP1 to ensure genome integrity.

    NBS1 interacts with HP1 to ensure genome integrity.
    Bosso G, Cipressa F, Moroni ML, Pennisi R, Albanesi J, Brandi V, Cugusi S, Renda F, Ciapponi L, Polticelli F, Antoccia A, di Masi A, Cenci G., Free PMC Article

    09/12/2020
    The genotypes of NBS1 rs1805794 are not closely associated with personal susceptibility to bladder cancer.

    Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk.
    Chen M, Chang WS, Shen TC, Gong CL, Lin ML, Wang ZH, Wang YC, Chen CH, Wu HC, Bau DT, Tsai CW.

    04/11/2020
    The Mre11-Rad50-Nbs1 (MRN) complex coordinates the repair of DNA double-strand breaks.

    Purification and Biophysical Characterization of the Mre11-Rad50-Nbs1 Complex.
    Myler LR, Soniat MM, Zhang X, Deshpande RA, Paull TT, Finkelstein IJ., Free PMC Article

    03/14/2020
    the pathogenicity of the NBN 657del5 mutation is restricted to women with a homozygous GG genotype of missense variant of the same gene (E185Q). This is the first clear example whereby a moderate penetrance breast cancer gene is impacted by a genetic modifier.

    Allelic modification of breast cancer risk in women with an NBN mutation.
    Rusak B, Kluźniak W, Wokołorczyk D, Stempa K, Kashyap A, Rudnicka H, Gronwald J, Huzarski T, Dębniak T, Jakubowska A, Szwiec M, Akbari MR, Narod SA, Lubiński J, Cybulski C, Polish Hereditary Breast Cancer Consortium.

    02/29/2020
    Results provide compelling evidence that a founder 657del5 mutation in NBN predisposes to aggressive prostate cancers and that the pathogenicity of this truncating mutation is modified by another allele of the same gene (E185Q).

    Inherited NBN Mutations and Prostate Cancer Risk and Survival.
    Rusak B, Kluźniak W, Wokołorczykv D, Stempa K, Kashyap A, Gronwald J, Huzarski T, Dębniak T, Jakubowska A, Masojć B, Akbari MR, Narodv SA, Lubiński J, Cybulski C., Free PMC Article

    12/21/2019
    Protein truncating variants (PTVs) in specific DNA repair genes were significantly overrepresented among patients with the aggressive phenotype, with BRCA2, ATM and NBN the most frequently mutated genes.

    Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
    Mijuskovic M, Saunders EJ, Leongamornlert DA, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Govindasami K, Brook MN, Haiman CA, Conti DV, Eeles RA, Kote-Jarai Z., Free PMC Article

    08/17/2019
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