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Search life-sciences literature (45,100,050 articles, preprints and more)

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Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.
Pal T, Mundt E, Richardson ME, Chao E, Pesaran T, Slavin TP, Couch FJ, Monteiro ANA
NPJ Precis Oncol, 8(1):247, 02 Nov 2024
Cited by: 0 articles | PMID: 39488595 | PMCID: PMC11531542
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, [...] Couch FJ
Am J Hum Genet, 111(11):2411-2426, 23 Sep 2024
Cited by: 0 articles | PMID: 39317201 | PMCID: PMC11568761
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, [...] Spurdle AB
Am J Hum Genet, 111(9):2044-2058, 13 Aug 2024
Cited by: 4 articles | PMID: 39142283
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germlineATMsequence variants
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, [...] Couch FJ
medRxiv, 29 May 2024
Cited by: 0 articles | PPR: PPR859054
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Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, Dezem FS, Seo JH, Nameki R, Reyes AL, Aben KKH, Anton-Culver H, Antonenkova NN, Aravantinos G, Bandera EV, Beane Freeman LE, Beckmann MW, Beeghly-Fadiel A, [...] Gayther SA
Am J Hum Genet, 111(6):1061-1083, 08 May 2024
Cited by: 3 articles | PMID: 38723632
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Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.
Nepomuceno TC, Lyra P, Zhu J, Yi F, Martin RH, Lupu D, Peterson L, Peres LC, Berry A, Iversen ES, Couch FJ, Mo Q, Monteiro AN
JCO Clin Cancer Inform, 8:e2300251, 01 May 2024
Cited by: 0 articles | PMID: 38709234
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BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA
HGG Adv, 5(3):100296, 25 Apr 2024
Cited by: 0 articles | PMID: 38669137 | PMCID: PMC11063634
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Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.
Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ, AOCS Group, Webb PM, Fasching PA, Lambrechts D, García MJ, Rodríguez-Antona C, Goodman MT, Modugno F, Moysich KB, Karlan BY, Lester J, Kjaer SK, Jensen A, Høgdall E, [...] Heitz F
NPJ Genom Med, 9(1):19, 05 Mar 2024
Cited by: 0 articles | PMID: 38443389 | PMCID: PMC10915171
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Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LP, Berrington de Gonzalez A, Berthet P, [...] Pharoah PD
medRxiv, 04 Mar 2024
Cited by: 0 articles | PPR: PPR816124
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC, Couch RE, Persons B, Polley EC, [...] Couch FJ
Am J Hum Genet, 111(3):584-593, 27 Feb 2024
Cited by: 2 articles | PMID: 38417439 | PMCID: PMC10940015
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MC, Feng B, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, [...] Spurdle AB
medRxiv, 23 Jan 2024
Cited by: 0 articles | PPR: PPR791863
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Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants
Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, Pesaran T, Lyra PCM, Karam R, Yadav S, Domchek SM, Hoya Mdl, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro AN, [...] Couch FJ
bioRxiv, 15 Dec 2023
Cited by: 0 articles | PPR: PPR774235
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BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA
HGG Adv, 4(4):100240, 16 Sep 2023
Cited by: 1 article | PMID: 37718511 | PMCID: PMC10558845
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to <i>BRCA1</i> and <i>BRCA2</i>.
Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Bojesen SE, Bolla MK, Brenner H, Brown MA, Buys SS, Canzian F, Caputo SM, Castelao JE, [...] Michailidou K
Hum Mutat, 2023:9961341, 14 Sep 2023
Cited by: 2 articles | PMID: 38725546 | PMCID: PMC11080979
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B, Biobank Japan, Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, [...] Kleibl Z
Clin Cancer Res, 29(16):3037-3050, 01 Aug 2023
Cited by: 6 articles | PMID: 37449874 | PMCID: PMC10425727
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Unexpected Cu and Zn speciation patterns in the broiler feed-animal-excreta system revealed by XAS spectroscopy.
Tella M, Legros S, Monteiro ANTR, Forouzandeh A, Penen F, Durosoy S, Doelsch E
Chemosphere, 340:139684, 31 Jul 2023
Cited by: 0 articles | PMID: 37532201
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Evolution of the triplet BRCT domain.
Mota MBS, Woods NT, Carvalho MA, Monteiro ANA, Mesquita RD
DNA Repair (Amst), 129:103532, 06 Jul 2023
Cited by: 0 articles | PMID: 37453244
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Reducing crude protein and supplementing amino acids in growing pig (50-70 kg) diets reduce nitrogen excretion but promotes different environmental impacts when using life cycle assessment
Esteves LAC, Monteiro ANTR, Castilha LD, de Araujo GA, Murakami AE, Pozza PC
Research Square, 08 Jun 2023
Cited by: 0 articles | PPR: PPR672908
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Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, [...] Jones MR
J Natl Cancer Inst, 114(11):1533-1544, 01 Nov 2022
Cited by: 5 articles | PMID: 36210504 | PMCID: PMC9949586
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Sedative Effect of Ketamin-Midazolam Administered at Acupoint GV20 Compared to Intramuscular Route in Blue-Fronted Amazon (Amazona aestiva): a Pilot Study.
Monteiro ANB, Petri BSS, Furuya H, Milanelo L, Scognamillo MVR, Hayashi AM
J Acupunct Meridian Stud, 15(5):314-321, 01 Oct 2022
Cited by: 1 article | PMID: 36521829
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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES, Couch FJ, Monteiro ANA, Carvalho MA
Sci Rep, 12(1):16203, 28 Sep 2022
Cited by: 3 articles | PMID: 36171434 | PMCID: PMC9519549
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Integrated proteomics identifies PARP inhibitor-induced prosurvival signaling changes as potential vulnerabilities in ovarian cancer.
Deng O, Dash S, Nepomuceno TC, Fang B, Yun SY, Welsh EA, Lawrence HR, Marchion D, Koomen JM, Monteiro AN, Rix U
J Biol Chem, 298(11):102550, 29 Sep 2022
Cited by: 0 articles | PMID: 36183837 | PMCID: PMC9636579
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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ
Clin Cancer Res, 28(17):3742-3751, 01 Sep 2022
Cited by: 4 articles | PMID: 35736817 | PMCID: PMC9433957
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Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer.
Fasching PA, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, Ekici AB, Reis A, Schneeweiss A, Tesch H, Fehm TN, Heinrich G, Beckmann MW, Ruebner M, Huebner H, Lambrechts D, Madden E, Shen J, [...] Wang L
Clin Cancer Res, 28(15):3342-3355, 01 Aug 2022
Cited by: 4 articles | PMID: 35653140 | PMCID: PMC9357161
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Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, [...] Yang XR
Hum Mutat, 43(10):1396-1407, 12 Jul 2022
Cited by: 3 articles | PMID: 35762214 | PMCID: PMC9444938
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1-25 of 201 results

1 2 3 Next ...

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germlineATMsequence variants

Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

BRCA1 frameshift variants leading to extended incorrect protein C termini.

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to <i>BRCA1</i> and <i>BRCA2</i>.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Unexpected Cu and Zn speciation patterns in the broiler feed-animal-excreta system revealed by XAS spectroscopy.

Evolution of the triplet BRCT domain.

Reducing crude protein and supplementing amino acids in growing pig (50-70 kg) diets reduce nitrogen excretion but promotes different environmental impacts when using life cycle assessment

Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.

Sedative Effect of Ketamin-Midazolam Administered at Acupoint GV20 Compared to Intramuscular Route in Blue-Fronted Amazon (Amazona aestiva): a Pilot Study.

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Integrated proteomics identifies PARP inhibitor-induced prosurvival signaling changes as potential vulnerabilities in ovarian cancer.

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer.

Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.

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