Publikationen

   Publikationen des Jahres 2024

ZBTB48 is a priming factor regulating B-cell-specific CIITA expression. |►| Rane G, Kuan VLS, Wang S, Mok MMH, Khanchandani V, Hansen J, Norvaisaite I, Zulkaflee N, Yong WK, Jahn A, Mukundan VT, Shi Y, Osato M, Li F, Kappei D. |►| EMBO J. 2024 Dec;43(24):6236-6263. Epub 2024 Nov 19. |►| PMID: 39562739.

Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers. |►| Li S, Madanat-Harjuoja L, Leslie G, Barnes DR, Bolla MK, Dennis J, Parsons MT, Apostolou P, Arnold N, Bosse K, On Behalf Of Embrace Collaborators ACA, Cook J, Engel C, Evans DG, Fostira F, Frone MN, Gehrig A, Greene MH, Hackmann K, Hahnen E, Harbeck N, Hauke J, Hentschel J, Horvath J, Izatt L, Kiechle M, Konstantopoulou I, Lalloo F, Yie JNY, Niederacher D, Ritter J, Santamariña M, Schmutzler RK, Searle C, Sutter C, Tischkowitz M, Tripathi V, Vega A, Wallaschek H, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Rebbeck TR, Diller LR. |►| J Natl Cancer Inst. 2024 Nov 25:djae306. [Epub ahead of print.] |►| PMID: 39585318.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders. |►| Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis JA, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake NJ, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh TC, Holtz AM, Haack TB, Gold NB, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet KA, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay BG, Arlt M, Anikar SS, Almohammal MN, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Jamra RA. |►| Genet Med. 2024 Nov 11:101326. [Epub ahead of print.] |►| PMID: 39540377.

Benchmarking whole exome sequencing in the German network for personalized medicine. |►| Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, Brüchle NO, Maurer A, Lehmann KV, Begemann M, Elbracht M, Meyer R, Dintner S, Claus R, Meier-Kolthoff JP, Blanc E, Möbs M, Joosten M, Benary M, Basitta P, Hölscher F, Tischler V, Groß T, Kutz O, Prause R, William D, Horny K, Goering W, Sivalingam S, Borkhardt A, Blank C, Junk SV, Yasin L, Moskalev EA, Carta MG, Ferrazzi F, Tögel L, Wolter S, Adam E, Matysiak U, Rosenthal T, Dönitz J, Lehmann U, Schmidt G, Bartels S, Hofmann W, Hirsch S, Dikow N, Göbel K, Banan R, Hamelmann S, Fink A, Ball M, Neumann O, Rehker J, Kloth M, Murtagh J, Hartmann N, Jurmeister P, Mock A, Kumbrink J, Jung A, Mayr EM, Jacob A, Trautmann M, Kirmse S, Falkenberg K, Ruckert C, Hirsch D, Immel A, Dietmaier W, Haack T, Marienfeld R, Fürstberger A, Niewöhner J, Gerstenmaier U, Eberhardt T, Greif PA, Appenzeller S, Maurus K, Doll J, Jelting Y, Jonigk D, Märkl B, Beule D, Horst D, Wulf AL, Aust D, Werner M, Reuter-Jessen K, Ströbel P, Auber B, Sahm F, Merkelbach-Bruse S, Siebolts U, Roth W, Lassmann S, Klauschen F, Gaisa NT, Weichert W, Evert M, Armeanu-Ebinger S, Ossowski S, Schroeder C, Schaaf CP, Malek N, Schirmacher P, Kazdal D, Pfarr N, Budczies J, Stenzinger A. |►| Eur J Cancer. 2024 Nov;211:114306. Epub 2024 Sep 8. |►| PMID: 39293347.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. |►| Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. |►| Brain. 2024 Oct 15:awae320. [Epub ahead of print.] |►| PMID: 39405200.

Exploring evolutionary trajectories in ovarian cancer patients by longitudinal analysis of ctDNA. |►| Kutz O, Drukewitz S, Krüger A, Aust D, William D, Oster S, Schröck E, Baretton G, Link T, Wimberger P, Kuhlmann JD. |►| Clin Chem Lab Med. 2024 Apr 5;62(10):2070-2081. |►| PMID: 38577791.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. |►| Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Choukair D, Bettendorf M, Spielmann M, Ripke A, Pauly M, Münchau A, Lohmann K, Hüning I, Hanker B, Bäumer T, Herzog R, Hellenbroich Y, Westphal DS, Strom T, Kovacs R, Riedhammer KM, Mayerhanser K, Graf E, Brugger M, Hoefele J, Oexle K, Mirza-Schreiber N, Berutti R, Schatz U, Krenn M, Makowski C, Weigand H, Schröder S, Rohlfs M, Vill K, Hauck F, Borggraefe I, Müller-Felber W, Kurth I, Elbracht M, Knopp C, Begemann M, Kraft F, Lemke JR, Hentschel J, Platzer K, Strehlow V, Abou Jamra R, Kehrer M, Demidov G, Beck-Wödl S, Graessner H, Sturm M, Zeltner L, Schöls LJ, Magg J, Bevot A, Kehrer C, Kaiser N, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz PM, Haack T, Ehmke N, Wagner M. |►| Nat Genet. 2024 Aug;56(8):1644-1653. Epub 2024 Jul 22. |►| PMID: 39039281.

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. |►| Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K; Bioinformatics Working Group of the German Consortium for Hereditary Breast & Ovarian Cancer; Schmidt G, Sturm M, Ernst C. |►| Eur J Hum Genet. 2024 Aug;32(8):987-997. Epub 2024 Jun 21. |►| PMID: 38907004.

Identification of Succinate Dehydrogenase Gene Variant Carriers by Blood Biomarkers. |►| Gebhardt M, Kunath C, Fröbel D, Funk AM, Peitzsch M, Nölting S, Deutschbein T, Januszewicz A, Timmers HJLM, Robledo M, Jahn A, Constantinescu G, Eisenhofer G, Pamporaki C, Richter S. |►| J Endocr Soc. 2024 Aug 4;8(9):bvae142. |►| PMID: 39145115.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. |►| van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. |►| HGG Adv. 2024 Jul 18;5(3):100289. Epub 2024 Apr 2. |►| PMID: 38571311.

Identification of novel snoRNA-based biomarkers for clear cell renal cell carcinoma from urine-derived extracellular vesicles. |►| Grützmann K, Salomo K, Krüger A, Lohse-Fischer A, Erdmann K, Seifert M, Baretton G, Aust D, William D, Schröck E, Thomas C, Füssel S. |►| Biol Direct. 2024 May 13;19(1):38. |►| PMID: 38741178.

Exceptional Response of BRAF^V600E-Mutated Acinar Cell CUP to BRAF/MEK Inhibition. |►| Kerle IA, Scheuble AM, Kobitzsch B, Stocker G, Hiller GGR, Badendick M, William D, Krueger A, Gross T, Koegler A, Hartig A, Richter D, Aust DE, Schroeck E, Heining C, Glimm H, Hacker UT. |►| JCO Precis Oncol. 2024 May;8:e2400030. |►| PMID: 38820503.

Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts. |►| Yabo YA, Moreno-Sanchez PM, Pires-Afonso Y, Kaoma T, Nosirov B, Scafidi A, Ermini L, Lipsa A, Oudin A, Kyriakis D, Grzyb K, Poovathingal SK, Poli A, Muller A, Toth R, Klink B, Berchem G, Berthold C, Hertel F, Mittelbronn M, Heiland DH, Skupin A, Nazarov PV, Niclou SP, Michelucci A, Golebiewska A. |►| Genome Med. 2024 Apr 2;16(1):51. |►| PMID: 38566128.

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS). |►Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy MC, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N, Vos JR. |► Cancers (Basel). 2024 Feb 27;16(5):953. |► PMID: 38473316.

An interconnected data infrastructure to support large-scale rare disease research. |►| Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. |►| Gigascience. 2024 Jan 2;13:giae058. |►| PMID: 39302238.

Publikationen des Jahres 2023

NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology |►Mock A, Teleanu MV, Kreutzfeldt S, Heilig CE, Hüllein J, Möhrmann L, Jahn A, Hanf D, Kerle IA, Singh HM, Hutter B, Uhrig S, Fröhlich M, Neumann O, Hartig A, Brückmann S, Hirsch S, Grund K, Dikow N, Lipka DB, Renner M, Bhatti IA, Apostolidis L, Schlenk RF, Schaaf CP, Stenzinger A, Schröck E, Hübschmann D, Heining C, Horak P, Glimm H, Fröhling S.  |►NPJ Precis Oncol. 2023 Oct 26;7(1):109. |►PMID: 37884744

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. |►Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. |► Genet Med. 2023 Oct;25(10):100927. Epub 2023 Jul 6. Erratum in: Genet Med. 2023 Sep 19;:100964. |►PMID: 37422718.

Signaling-induced systematic repression of miRNAs uncovers cancer vulnerabilities and targeted therapy sensitivity. |►Wurm AA, Brilloff S, Kolovich S, Schäfer S, Rahimian E, Kufrin V, Bill M, Carrero ZI, Drukewitz S, Krüger A, Hüther M, Uhrig S, Oster S, Westphal D, Meier F, Pfütze K, Hübschmann D, Horak P, Kreutzfeldt S, Richter D, Schröck E, Baretton G, Heining C, Möhrmann L, Fröhling S, Ball CR, Glimm H. |►Cell Rep Med. 2023 Oct 17;4(10):101200. Epub 2023 Sep 20.|► PMID: 37734378

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. |►| Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. |►| Eur J Hum Genet. 2023 Aug;31(8):905-917. Epub 2023 May 15. |►| PMID: 37188825.

A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children. |►| Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F. |►| Genet Med. 2023 Aug;25(8):100875. Epub 2023 May 3. |►| PMID: 37149759.

Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification. |►| Tretter C, de Andrade Krätzig N, Pecoraro M, Lange S, Seifert P, von Frankenberg C, Untch J, Zuleger G, Wilhelm M, Zolg DP, Dreyer FS, Bräunlein E, Engleitner T, Uhrig S, Boxberg M, Steiger K, Slotta-Huspenina J, Ochsenreither S, von Bubnoff N, Bauer S, Boerries M, Jost PJ, Schenck K, Dresing I, Bassermann F, Friess H, Reim D, Grützmann K, Pfütze K, Klink B, Schröck E, Haller B, Kuster B, Mann M, Weichert W, Fröhling S, Rad R, Hiltensperger M, Krackhardt AM. |►| Nat Commun. 2023 Aug 2;14(1):4632. |►| PMID: 37532709.

Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling. |►| Teleanu MV, Fuss CT, Paramasivam N, Pirmann S, Mock A, Terkamp C, Kircher S, Landwehr LS, Lenschow C, Schlegel N, Stenzinger A, Jahn A, Fassnacht M, Glimm H, Hübschmann D, Fröhling S, Kroiss M. |►| Mol Oncol. 2023 Jul;17(7):1343-1355. Epub 2023 Apr 11. |►| PMID: 36808802.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. |►| Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. |►| Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. Epub 2023 Jun 22. |►| PMID: 37352860.

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer. |►| São José C, Garcia-Pelaez J, Ferreira M, Arrieta O, André A, Martins N, Solís S, Martínez-Benítez B, Ordóñez-Sánchez ML, Rodríguez-Torres M, Sommer AK, te Paske, Caldas C, Tischkowitz M, Tusié MT, Solve-RD DITF-GENTURIS, Hoogerbrugge N, Demidov G, de Voer RM, Laurie S, Oliveira C.|►| Gastric Cancer. 2023 May 30. |►| doi: 10.1007/s10120-023-01395-0.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder. |►|Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. |►| Am J Hum Genet. 2023 May 4;110(5):774-789. |►| PMID: 37054711.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. |►|Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. |►| Genet Med. 2023 Apr; 25(4):100018. |►|PMID: 36681873.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. |►| Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium. |►| Hum Genomics. 2023 May 3; 17(1):39. |►| PMID: 37138343.

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. |►| Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. |►| Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. |►| PMID: 36458889.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. |►| Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. |►| HGG Adv. 2023 Mar 3;4(2):100186. |►|  PMID: 37009414.

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.  |►| Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldberg Y, Tjandra D, Ten Broeke SW, Kariv R, Rosner G, Advani SH, Thomas L, Shah P, Shah M, Neffa F, Esperon P, Pavicic W, Torrezan GT, Bassaneze T, Martin CA, Moslein G, Moller P.  |►| EClinicalMedicine. 2023 Mar 20;58:101909.  |►| PMID: 37181409.

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. |►| Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Sorge I, Lemke JR, Meitinger T, Abou Jamra R, Strehlow V, Brunet T. |►| Clin Genet. 2023 Feb;103(2):226-230. |►| PMID: 36189577.

Identification of epigenetically regulated genes distinguishing intracranial from extracranial melanoma metastases|►|Westphal D, Meinhardt M, Grützmann K, Schöne L, Steininger J, Neuhaus LT, Wiegel M, Schrimpf D, Aust DE, Schröck E, Baretton GB, Beissert S, Juratli TA, Schackert GG, Gravemeyer J, Becker JC, von Deimling A, Koelsche C, Klink B, Meier F, Schulz A, Muders MH, Seifert M |►| J Invest Dermatol. 2023 Jan 27:S0022-202X(23)00030-1.  |►| PMID: 36716920 

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. |►| Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. |►|Lancet Oncol. 2023 Jan;24(1):91-106. |►| PMID: 36436516.

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. |►| Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. |►| J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. |►| PMID: 36171661.

Publikationen des Jahres 2022

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort  
|►| Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A, Mensenkamp AR, Vos JR; PTEN Study Group |►| Eur J Med Genet. 2022 Dec;65(12):104632. |►| doi: 10.1016/j.ejmg.2022.104632. |►| PMID: 36270489.

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms |►| Pape K, Lößner AJ, William D, Czempiel T, Beyreuther E, Klimova A, Lehmann C, Schmäche T, Merker SR, Naumann M, Ada AM, Baenke F, Seidlitz T, Bütof R, Dietrich A, Krause M, Weitz J, Klink B, von Neubeck C, Stange DE |►| Cancers (Basel). 2022 Oct 11;14(20):4984.|►| doi: 10.3390/cancers14204984.|►| PMID: 36291768.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea |►| Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ.  |►|  Nat Genet. 2022 Oct;54(10):1534-1543. |►|  doi: 10.1038/s41588-022-01185-x. |►| PMID: 36195757.

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome  |►| Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group, Vos JR. |►| J Natl Cancer Inst. 2022 Sep 28:djac188.  |►|doi: 10.1093/jnci/djac188. Epub ahead of print.  |►| PMID: 36171661.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. |►| Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. |►| Brain. 2022 Sep 14;145(9):3274-3287. |►| PMID: 35769015.

The miR-183/96/182 cluster is upregulated in glioblastoma carrying EGFR amplification. |►| Schneider B, William D, Lamp N, Zimpfer A, Henker C, Classen CF, Erbersdobler A. |►| Mol Cell Biochem. 2022 Sep;477(9):2297-2307. Epub 2022 Apr 29. |►| PMID: 35486213.

Gene expression-based prediction of pazopanib efficacy in sarcoma. |►| Heilig CE, Laßmann A, Mughal SS, Mock A, Pirmann S, Teleanu V, Renner M, Andresen C, Köhler BC, Aybey B, Bauer S, Siveke JT, Hamacher R, Folprecht G, Richter S, Schröck E, Brandts CH, Ahrens M, Hohenberger P, Egerer G, Kindler T, Boerries M, Illert AL, von Bubnoff N, Apostolidis L, Jost PJ, Westphalen CB, Weichert W, Keilholz U, Klauschen F, Beck K, Winter U, Richter D, Möhrmann L, Bitzer M, Schulze-Osthoff K, Brors B, Mechtersheimer G, Kreutzfeldt S, Heining C, Lipka DB, Stenzinger A, Schlenk RF, Horak P, Glimm H, Hübschmann D, Fröhling S. |►| Eur J Cancer. 2022 Sep;172:107-118. [Epub 2022 Jun 25]. |►| PMID: 35763870.

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers. |►| Jahn A, Rump A, Widmann T J, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Orleś M, Valle González C, Kreutzfeldt S, Mock A, Heilig C E, Lipka D B, Möhrmann L, Hanf D, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K , Richter D, Winter U, Wolf S, Pfütze , Geörg C, Meißburger B, Buchhalter I,  Augustin M, Aulitzky W E, Hohenberger P, Kroiss M, Schirmacher P,  Schlenk R F, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke J T, Brandts C H, Kindler T, Boerries M, Illert A L, von Bubnoff N, Jost P J , Metzeler K H, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B , Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B|►| Ann Oncol. 2022 Nov;33(11):1186-1199.  |►| doi: 10.1016/j.annonc.2022.07.008 |►| PMID: 35988656.

DNA methylation changes associated with cannabis use and verbal learning performance in adolescents: an exploratory whole genome methylation study |►| Wiedmann M, Kuitunen-Paul S, Basedow LA, Wolff M, DiDonato N, Franzen J, Wagner W, Roessner V, Golub Y. |►|  Transl Psychiatry. 2022 Aug 6;12(1):317. |►| doi: 10.1038/s41398-022-02025-6. |►| PMID: 35933470.

Combined Systemic Drug Treatment with Proton Therapy: Investigations on Patient-Derived Organoids. |►| Naumann M, Czempiel T, Lößner AJ, Pape K, Beyreuther E, Löck S, Drukewitz S, Hennig A, von Neubeck C, Klink B, Krause M, William D, Stange DE, Bütof R, Dietrich A. |►| Cancers (Basel). 2022 Aug 3;14(15):3781. |►| PMID: 35954444.

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity. |►| Möhrmann L, Werner M, Oleś M, Mock A, Uhrig S, Jahn A, Kreutzfeldt S, Fröhlich M, Hutter B, Paramasivam N, Richter D, Beck K, Winter U, Pfütze K, Heilig CE, Teleanu V, Lipka DB, Zapatka M, Hanf D, List C, Allgäuer M, Penzel R, Rüter G, Jelas I, Hamacher R, Falkenhorst J, Wagner S, Brandts CH, Boerries M, Illert AL, Metzeler KH, Westphalen CB, Desuki A, Kindler T, Folprecht G, Weichert W, Brors B, Stenzinger A, Schröck E, Hübschmann D, Horak P, Heining C, Fröhling S, Glimm H. |►| Nat Commun. 2022 Aug 2;13(1):4485. |►| PMID: 35918329.

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. |►| Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, Bralo MP, Tenorio-Castaño J, Lapunzina P, Almoguera B, Lopez-Grondona F, Sticht H, Zweier C. |►|  Clin Genet. 2022 Dec;102(6):517-523.|►| doi: 10.1111/cge.14206.  |►|PMID: 35908153.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. |►| Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J. |►| Cancers (Basel). 2022 Jul 11;14(14):3363. |►| PMID: 35884425.

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. |►| Rolfes M, Borde J, Möllenhoff K, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Horváth J, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Ritter J, Hentschel J, Thiele H, Altmüller J, Nürnberg P, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J. |►| Cancers (Basel). 2022 Jul 5;14(13):3292. |►| PMID: 35805063.

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers. |►| Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C. |►| BMC Cancer. 2022 Jun 27;22(1):706. |►| PMID: 35761208.

OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome. |►| Tecklenburg J, Vajen B, Morlot S, Anders P, Memenga P, Link E, Baumann E, Wölffling S, Schröck E, Bergmann AK, Schlegelberger B. |►| BMC Health Serv Res. 2022 Jun 21;22(1):805. |►| PMID: 35729592.

Different Effects of RNAi-Mediated Downregulation or Chemical Inhibition of NAMPT in an Isogenic IDH Mutant and Wild-Type Glioma Cell Model. |►| Clausing M, William D, Preussler M, Biedermann J, Grützmann K, Richter S, Buchholz F, Temme A, Schröck E, Klink B. |►| Int J Mol Sci. 2022 May 21;23(10):5787. |►| PMID: 35628596.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4. |►| Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tönsing V, Nürnberg P, Nürnberg G, Schweiger M, Digweed M, Hildebrand G, Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D, Sperling K. |►| Hum Genet. 2022 Nov;141(11):1785-1794. |►|doi: 10.1007/s00439-022-02461-w. |►| PMID: 35536377.

Personalized drug testing in human pheochromocytoma/paraganglioma primary cultures. |►| Wang K, Schütze I, Gulde S, Bechmann N, Richter S, Helm J, Lauseker M, Maurer J, Reul A, Spoettl G, Klink B, William D, Knösel T, Friemel J, Bihl M, Weber A, Fankhauser M, Schober L, Vetter D, Broglie Däppen M, Ziegler CG, Ullrich M, Pietzsch J, Bornstein SR, Lottspeich C, Kroiss M, Fassnacht M, Wenter VUJ, Ladurner R, Hantel C, Reincke M, Eisenhofer G, Grossman AB, Pacak K, Beuschlein F, Auernhammer CJ, Pellegata NS, Nölting S. |►| Endocr Relat Cancer. 2022 May 9;29(6):285-306. |►| PMID: 35324454.

Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases.  |►| Kast K, Häfner J, Schröck E, Jahn A, Werner C, Meisel C, Wimberger P.  |►|  Breast Care (Basel). 2022 Apr;17(2):153-158. PMID: 35702497.

Stx4 is required to regulate cardiomyocyte Ca²⁺ handling during vertebrate cardiac development. |►| Perl E, Ravisankar P, Beerens ME, Mulahasanovic L, Smallwood K, Sasso MB, Wenzel C, Ryan TD, Komár M, Bove KE, MacRae CA, Weaver KN, Prada CE, Waxman JS. |►| HGG Adv. 2022 Apr 27;3(3):100115.  |►| PMID: 35599850.

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. |►| Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. |►| Eur J Cell Biol. 2022 Apr;101(2):151216. |►|doi: 10.1016/j.ejcb.2022.151216. |►|PMID: 35313204.

Diagnostic pitfalls in patients with malformations of cortical development. |►| Fischer J, Di Donato N. |►| Eur J Paediatr Neurol. 2022 Mar;37:123-128.|►|  doi:10.1016/j.ejpn.2022.01.017. |►| PMID: 35228169.

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. |►| Sommer AK, Te Paske IBAW, Garcia-Pelaez J, Laner A, Holinski-Feder E, Steinke-Lange V, Peters S, Valle L, Spier I, Huntsman D; Solve-RD-GENTURIS group; Capella G, Evans G, Rump A, Schröck E, Hoischen A, Geverink N, Tischkowitz M, Matalonga L, Laurie S, Gilissen C. Steyaert W, Demidov G, Oliveira C,. de Voer RM, Hoogerbrugge N, Aretz S. |►| Eur J Med Genet. 2022 Mar 10;104475. |►| PMID: 35283344

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. |►| Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC. |►| J Clin Oncol. 2022 May 10;40(14):1529-1541. |►| doi: 10.1200/JCO.21.02112. |►|  PMID: 35077220.