Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Frontiers In Genetics
Jürgens, Hannes H; Roht, Laura L; Leitsalu, Liis L; Nõukas, Margit M; Palover, Marili M; Nikopensius, Tiit T; Reigo, Anu A; Kals, Mart M; Kallak, Kersti K; Kütner, Riina R; Budrikas, Kai K; Kuusk, Saskia S; Valvere, Vahur V; Laidre, Piret P; Toome, Kadri K; Rekker, Kadri K; Tooming, Mikk M; Ülle Murumets, ; Kahre, Tiina T; Kruuv-Käo, Krista K; Õunap, Katrin K; Padrik, Peeter P; Metspalu, Andres A; Esko, Tõnu T; Fischer, Krista K; Tõnisson, Neeme N
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.
Acta Neuropathologica
Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F
Publication Date: 2022-10
Variant appearance in text: ATM: 4258C>T; L1420F; rs1800058
Breast cancer in the era of integrating "Omics" approaches.
Oncogenesis
Rossi, Claudia C; Cicalini, Ilaria I; Cufaro, Maria Concetta MC; Consalvo, Ada A; Upadhyaya, Prabin P; Sala, Gianluca G; Antonucci, Ivana I; Del Boccio, Piero P; Stuppia, Liborio L; De Laurenzi, Vincenzo V
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: ATM: 4258C>T; L1420F; rs1800058
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: ATM: 4258C>T; Leu1420Phe
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-08-25
Variant appearance in text: ATM: 4258C>T; Leu1420Phe
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
Blood Cancer Journal
Bache, Iben I; Wadt, Karin K; Mehrjouy, Mana M MM; Rossing, Maria M; Østrup, Olga O; Byrjalsen, Anna A; Tommerup, Niels N; Metzner, Marlen M; Vyas, Paresh P; Schmiegelow, Kjeld K; Lausen, Birgitte B; Andersen, Mette K MK
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10
Variant appearance in text: ATM: Leu1420Phe; rs1800058
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: ATM: 4258C>T; L1420F; rs1800058
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Oncogene
Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN
Publication Date: 2019-03
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
Identification of genetic variants for clinical management of familial colorectal tumors.
Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20
Variant appearance in text: ATM: L1420F; rs1800058
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
Familial Cancer
West, Allison H AH; Blazer, Kathleen R KR; Stoll, Jessica J; Jones, Matthew M; Weipert, Caroline M CM; Nielsen, Sarah M SM; Kupfer, Sonia S SS; Weitzel, Jeffrey N JN; Olopade, Olufunmilayo I OI
Publication Date: 2018-10
Variant appearance in text: ATM: 4258C>T; Leu1420Phe
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11
Variant appearance in text: ATM: L1420F; rs1800058
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: ATM: L1420F; rs1800058
Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.
Oncotarget
Zhao, Yuguang Y; Yang, Lei L; Wu, Di D; He, Hua H; Wang, Mengmeng M; Ge, Tingwen T; Liu, Yudi Y; Tian, Huimin H; Cui, Jiuwei J; Jia, Lin L; Wan, Ziqiang Z; Han, Fujun F
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Bmc Medical Genomics
Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK
Publication Date: 2016-04-11
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: ATM: L1420F; rs1800058
Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.
Scientific Reports
Wong, Stephen Q SQ; Li, Jason J; Salemi, Renato R; Sheppard, Karen E KE; Do, Hongdo H; Tothill, Richard W RW; McArthur, Grant A GA; Dobrovic, Alexander A
Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Cole, Stephen R SR; Engel, Lawrence S LS; Bensen, Jeannette T JT; Poole, Charles C; Herring, Amy H AH; Millikan, Robert C RC
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03
Variant appearance in text: ATM: L1420F; rs1800058
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
American Journal Of Human Genetics
Xue, Yali Y; Chen, Yuan Y; Ayub, Qasim Q; Huang, Ni N; Ball, Edward V EV; Mort, Matthew M; Phillips, Andrew D AD; Shaw, Katy K; Stenson, Peter D PD; Cooper, David N DN; Tyler-Smith, Chris C; ,
Publication Date: 2012-12-07
Variant appearance in text: ATM: 4258C>T; Leu1420Phe
Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Fletcher, Olivia O; Johnson, Nichola N; dos Santos Silva, Isabel I; Orr, Nick N; Ashworth, Alan A; Nevanlinna, Heli H; Heikkinen, Tuomas T; Aittomäki, Kristiina K; Blomqvist, Carl C; Burwinkel, Barbara B; Bartram, Claus R CR; Meindl, Alfons A; Schmutzler, Rita K RK; Cox, Angela A; Brock, Ian I; Elliott, Graeme G; Reed, Malcolm W R MW; Southey, Melissa C MC; Smith, Letitia L; Spurdle, Amanda B AB; Hopper, John L JL; Couch, Fergus J FJ; Olson, Janet E JE; Wang, Xianshu X; Fredericksen, Zachary Z; Schürmann, Peter P; Waltes, Regina R; Bremer, Michael M; Dörk, Thilo T; Devilee, Peter P; van Asperen, Christie J CJ; Tollenaar, Rob A E M RA; Seynaeve, Caroline C; Hall, Per P; Czene, Kamila K; Humphreys, Keith K; Liu, Jianjun J; Ahmed, Shahana S; Dunning, Alison M AM; Maranian, Melanie M; Pharoah, Paul D P PD; Chenevix-Trench, Georgia G; , ; , ; Beesley, Jonathan J; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Zalutsky, Iosif V IV; Anton-Culver, Hoda H; Ziogas, Argyrios A; Brauch, Hiltrud H; Ko, Yon-Dschun YD; Hamann, Ute U; , ; Fasching, Peter A PA; Strick, Reiner R; Ekici, Arif B AB; Beckmann, Matthias W MW; Giles, Graham G GG; Severi, Gianluca G; Baglietto, Laura L; English, Dallas R DR; Milne, Roger L RL; Benítez, Javier J; Arias, José Ignacio JI; Pita, Guillermo G; Nordestgaard, Børge G BG; Bojesen, Stig E SE; Flyger, Henrik H; Kang, Daehee D; Yoo, Keun-Young KY; Noh, Dong Young DY; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; García-Closas, Montserrat M; Chanock, Stephen S; Lissowska, Jolanta J; Brinton, Louise A LA; Chang-Claude, Jenny J; Wang-Gohrke, Shan S; Broeks, Annegien A; Schmidt, Marjanka K MK; van Leeuwen, Flora E FE; Van't Veer, Laura J LJ; Margolin, Sara S; Lindblom, Annika A; Humphreys, Manjeet K MK; Morrison, Jonathan J; Platte, Radka R; Easton, Douglas F DF; Peto, Julian J; ,
Publication Date: 2010-09
Variant appearance in text: ATM: L1420F; rs1800058
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
Cancer Research
Concannon, Patrick P; Haile, Robert W RW; Børresen-Dale, Anne-Lise AL; Rosenstein, Barry S BS; Gatti, Richard A RA; Teraoka, Sharon N SN; Diep, T Anh TA; Jansen, Laila L; Atencio, David P DP; Langholz, Bryan B; Capanu, Marinela M; Liang, Xiaolin X; Begg, Colin B CB; Thomas, Duncan C DC; Bernstein, Leslie L; Olsen, Jørgen H JH; Malone, Kathleen E KE; Lynch, Charles F CF; Anton-Culver, Hoda H; Bernstein, Jonine L JL; ,
Publication Date: 2008-08-15
Variant appearance in text: ATM: 4258C>T; Leu1420Phe; rs1800058
Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.
Radiation Oncology (London, England)
Edvardsen, Hege H; Tefre, Toril T; Jansen, Laila L; Vu, Phuong P; Haffty, Bruce G BG; Fosså, Sophie D SD; Kristensen, Vessela N VN; Børresen-Dale, Anne-Lise AL
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Breast Cancer Research And Treatment
Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ