ATM c.332-804G>A

Variant ID: 11-108105593-G-A

NM_000051.3(ATM):c.332-804G>A

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Telomere length is causally connected to brain MRI image derived phenotypes: A mendelian randomization study.

Plos One
Salih, Ahmed A; Galazzo, Ilaria Boscolo IB; Petersen, Steffen E SE; Lekadir, Karim K; Radeva, Petia P; Menegaz, Gloria G; Altmann, André A
Publication Date: 2022

Variant appearance in text: rs228595
PubMed Link: 36399449
Variant Present in the following documents:
  • Main text
  • pone.0277344.pdf
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Genetically predicted telomere length and Alzheimer's disease endophenotypes: a Mendelian randomization study.

Alzheimer'S Research & Therapy
Rodríguez-Fernández, Blanca B; Vilor-Tejedor, Natalia N; Arenaza-Urquijo, Eider M EM; Sánchez-Benavides, Gonzalo G; Suárez-Calvet, Marc M; Operto, Grégory G; Minguillón, Carolina C; Fauria, Karine K; Kollmorgen, Gwendlyn G; Suridjan, Ivonne I; de Moura, Manuel Castro MC; Piñeyro, David D; Esteller, Manel M; Blennow, Kaj K; Zetterberg, Henrik H; De Vivo, Immaculata I; Molinuevo, José Luis JL; Navarro, Arcadi A; Gispert, Juan Domingo JD; Sala-Vila, Aleix A; Crous-Bou, Marta M; ,
Publication Date: 2022-11-07

Variant appearance in text: rs228595
PubMed Link: 36345036
Variant Present in the following documents:
  • Main text
  • 13195_2022_Article_1101.pdf
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Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.

Nature Communications
Brown, Derek W DW; Zhou, Weiyin W; Wang, Youjin Y; Jones, Kristine K; Luo, Wen W; Dagnall, Casey C; Teshome, Kedest K; Klein, Alyssa A; Zhang, Tongwu T; Lin, Shu-Hong SH; Lee, Olivia W OW; Khan, Sairah S; Vo, Jacqueline B JB; Hutchinson, Amy A; Liu, Jia J; Wang, Jiahui J; Zhu, Bin B; Hicks, Belynda B; Martin, Andrew St AS; Spellman, Stephen R SR; Wang, Tao T; Deeg, H Joachim HJ; Gupta, Vikas V; Lee, Stephanie J SJ; Freedman, Neal D ND; Yeager, Meredith M; Chanock, Stephen J SJ; Savage, Sharon A SA; Saber, Wael W; Gadalla, Shahinaz M SM; Machiela, Mitchell J MJ
Publication Date: 2022-09-08

Variant appearance in text: rs228595
PubMed Link: 36075929
Variant Present in the following documents:
  • Main text
  • 41467_2022_32986_MOESM1_ESM.pdf
  • 41467_2022_Article_32986.pdf
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A causal relationship between leukocyte telomere length and multiple sclerosis: A Mendelian randomization study.

Frontiers In Immunology
Liao, Qiao Q; He, Jian J; Tian, Fa-Fa FF; Bi, Fang-Fang FF; Huang, Kun K
Publication Date: 2022

Variant appearance in text: rs228595
PubMed Link: 35911771
Variant Present in the following documents:
  • Main text
  • fimmu-13-922922.pdf
View BVdb publication page



Association Between Telomere Length and Skin Cancer and Aging: A Mendelian Randomization Analysis.

Frontiers In Genetics
Son, Nannan N; Cui, Yankun Y; Xi, Wang W
Publication Date: 2022

Variant appearance in text: rs228595
PubMed Link: 35903361
Variant Present in the following documents:
  • Main text
  • fgene-13-931785.pdf
View BVdb publication page



Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.

Cell Genomics
Taub, Margaret A MA; Conomos, Matthew P MP; Keener, Rebecca R; Iyer, Kruthika R KR; Weinstock, Joshua S JS; Yanek, Lisa R LR; Lane, John J; Miller-Fleming, Tyne W TW; Brody, Jennifer A JA; Raffield, Laura M LM; McHugh, Caitlin P CP; Jain, Deepti D; Gogarten, Stephanie M SM; Laurie, Cecelia A CA; Keramati, Ali A; Arvanitis, Marios M; Smith, Albert V AV; Heavner, Benjamin B; Barwick, Lucas L; Becker, Lewis C LC; Bis, Joshua C JC; Blangero, John J; Bleecker, Eugene R ER; Burchard, Esteban G EG; Celedón, Juan C JC; Chang, Yen Pei C YPC; Custer, Brian B; Darbar, Dawood D; de Las Fuentes, Lisa L; DeMeo, Dawn L DL; Freedman, Barry I BI; Garrett, Melanie E ME; Gladwin, Mark T MT; Heckbert, Susan R SR; Hidalgo, Bertha A BA; Irvin, Marguerite R MR; Islam, Talat T; Johnson, W Craig WC; Kaab, Stefan S; Launer, Lenore L; Lee, Jiwon J; Liu, Simin S; Moscati, Arden A; North, Kari E KE; Peyser, Patricia A PA; Rafaels, Nicholas N; Seidman, Christine C; Weeks, Daniel E DE; Wen, Fayun F; Wheeler, Marsha M MM; Williams, L Keoki LK; Yang, Ivana V IV; Zhao, Wei W; Aslibekyan, Stella S; Auer, Paul L PL; Bowden, Donald W DW; Cade, Brian E BE; Chen, Zhanghua Z; Cho, Michael H MH; Cupples, L Adrienne LA; Curran, Joanne E JE; Daya, Michelle M; Deka, Ranjan R; Eng, Celeste C; Fingerlin, Tasha E TE; Guo, Xiuqing X; Hou, Lifang L; Hwang, Shih-Jen SJ; Johnsen, Jill M JM; Kenny, Eimear E EE; Levin, Albert M AM; Liu, Chunyu C; Minster, Ryan L RL; Naseri, Take T; Nouraie, Mehdi M; Reupena, Muagututi'a Sefuiva MS; Sabino, Ester C EC; Smith, Jennifer A JA; Smith, Nicholas L NL; Su, Jessica Lasky JL; Taylor, James G JG; Telen, Marilyn J MJ; Tiwari, Hemant K HK; Tracy, Russell P RP; White, Marquitta J MJ; Zhang, Yingze Y; Wiggins, Kerri L KL; Weiss, Scott T ST; Vasan, Ramachandran S RS; Taylor, Kent D KD; Sinner, Moritz F MF; Silverman, Edwin K EK; Shoemaker, M Benjamin MB; Sheu, Wayne H-H WH; Sciurba, Frank F; Schwartz, David A DA; Rotter, Jerome I JI; Roden, Daniel D; Redline, Susan S; Raby, Benjamin A BA; Psaty, Bruce M BM; Peralta, Juan M JM; Palmer, Nicholette D ND; Nekhai, Sergei S; Montgomery, Courtney G CG; Mitchell, Braxton D BD; Meyers, Deborah A DA; McGarvey, Stephen T ST; , ; Mak, Angel Cy AC; Loos, Ruth Jf RJ; Kumar, Rajesh R; Kooperberg, Charles C; Konkle, Barbara A BA; Kelly, Shannon S; Kardia, Sharon Lr SL; Kaplan, Robert R; He, Jiang J; Gui, Hongsheng H; Gilliland, Frank D FD; Gelb, Bruce D BD; Fornage, Myriam M; Ellinor, Patrick T PT; de Andrade, Mariza M; Correa, Adolfo A; Chen, Yii-Der Ida YI; Boerwinkle, Eric E; Barnes, Kathleen C KC; Ashley-Koch, Allison E AE; Arnett, Donna K DK; , ; , ; , ; Laurie, Cathy C CC; Abecasis, Goncalo G; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Levy, Daniel D; Ruczinski, Ingo I; Aviv, Abraham A; Blackwell, Thomas W TW; Thornton, Timothy T; O'Connell, Jeff J; Cox, Nancy J NJ; Perry, James A JA; Armanios, Mary M; Battle, Alexis A; Pankratz, Nathan N; Reiner, Alexander P AP; Mathias, Rasika A RA
Publication Date: 2022-01-12

Variant appearance in text: rs228595
PubMed Link: 35530816
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Mendelian Randomization Study Implies Causal Linkage Between Telomere Length and Juvenile Idiopathic Arthritis in a European Population.

Journal Of Inflammation Research
Zhang, Jun J
Publication Date: 2022

Variant appearance in text: rs228595
PubMed Link: 35210806
Variant Present in the following documents:
  • Main text
  • jir-15-977.pdf
View BVdb publication page



Genetically Predicted Longer Telomere Length May Reduce Risk of Hip Osteoarthritis.

Frontiers In Genetics
Yang, Jing J; Xu, Huiqing H; Cai, Bingyue B; Wei, Jiahe J; Sun, Lingling L; Li, Yasong Y; Wang, Tianle T; Li, Yingjun Y
Publication Date: 2021

Variant appearance in text: rs228595
PubMed Link: 34675961
Variant Present in the following documents:
  • Main text
  • fgene-12-718890.pdf
View BVdb publication page



Relationship between genetically determined telomere length and glioma risk.

Neuro-Oncology
Saunders, Charlie N CN; Kinnersley, Ben B; Culliford, Richard R; Cornish, Alex J AJ; Law, Philip J PJ; Houlston, Richard S RS
Publication Date: 2021-09-03

Variant appearance in text: rs228595
PubMed Link: 34477880
Variant Present in the following documents:
  • Main text
  • noab208.pdf
View BVdb publication page



Relationship between genetically determined telomere length and glioma risk.

Neuro-Oncology
Saunders, Charlie N CN; Kinnersley, Ben B; Culliford, Richard R; Cornish, Alex J AJ; Law, Philip J PJ; Houlston, Richard S RS
Publication Date: 2022-02-01

Variant appearance in text: rs228595
PubMed Link: 34477880
Variant Present in the following documents:
  • Main text
  • noab208.pdf
View BVdb publication page



Genetically Predicted Telomere Length and Its Relationship With Alzheimer's Disease.

Frontiers In Genetics
Yu, Guangping G; Lu, Leihong L; Ma, Zaihong Z; Wu, Shouhai S
Publication Date: 2021

Variant appearance in text: rs228595
PubMed Link: 33679878
Variant Present in the following documents:
  • Main text
  • fgene-12-595864.pdf
View BVdb publication page



Assessing the Relationship Between Leukocyte Telomere Length and Cancer Risk/Mortality in UK Biobank and TCGA Datasets With the Genetic Risk Score and Mendelian Randomization Approaches.

Frontiers In Genetics
Gao, Yixin Y; Wei, Yongyue Y; Zhou, Xiang X; Huang, Shuiping S; Zhao, Huashuo H; Zeng, Ping P
Publication Date: 2020

Variant appearance in text: rs228595
PubMed Link: 33193711
Variant Present in the following documents:
  • Main text
  • fgene-11-583106.pdf
View BVdb publication page



Association between genetically predicted telomere length and facial skin aging in the UK Biobank: a Mendelian randomization study.

Geroscience
Zhan, Yiqiang Y; Hägg, Sara S
Publication Date: 2021-06

Variant appearance in text: rs228595
PubMed Link: 33033864
Variant Present in the following documents:
  • Main text
  • 11357_2020_Article_283.pdf
View BVdb publication page



Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.

Plos One
Protsenko, Ekaterina E; Rehkopf, David D; Prather, Aric A AA; Epel, Elissa E; Lin, Jue J
Publication Date: 2020

Variant appearance in text: rs228595
PubMed Link: 33031470
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
Publication Date: 2020-03-05

Variant appearance in text: rs228595
PubMed Link: 32109421
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • mmc2.xlsx, sheet 9
  • main.pdf
View BVdb publication page



Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01

Variant appearance in text: ATM: 332-804G>A; rs228595
PubMed Link: 31911677
Variant Present in the following documents:
  • EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 4
View BVdb publication page



Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Breast Cancer Research And Treatment
Hamdi, Yosr Y; Soucy, Penny P; Kuchenbaeker, Karoline B KB; Pastinen, Tomi T; Droit, Arnaud A; Lemaçon, Audrey A; Adlard, Julian J; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arason, Adalgeir A; Arnold, Norbert N; Arun, Banu K BK; Azzollini, Jacopo J; Bane, Anita A; Barjhoux, Laure L; Barrowdale, Daniel D; Benitez, Javier J; Berthet, Pascaline P; Blok, Marinus J MJ; Bobolis, Kristie K; Bonadona, Valérie V; Bonanni, Bernardo B; Bradbury, Angela R AR; Brewer, Carole C; Buecher, Bruno B; Buys, Saundra S SS; Caligo, Maria A MA; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KB; Daly, Mary B MB; Damiola, Francesca F; Davidson, Rosemarie R; De la Hoya, Miguel M; De Leeneer, Kim K; Diez, Orland O; Ding, Yuan Chun YC; Dolcetti, Riccardo R; Domchek, Susan M SM; Dorfling, Cecilia M CM; Eccles, Diana D; Eeles, Ros R; Einbeigi, Zakaria Z; Ejlertsen, Bent B; , ; Engel, Christoph C; Gareth Evans, D D; Feliubadalo, Lidia L; Foretova, Lenka L; Fostira, Florentia F; Foulkes, William D WD; Fountzilas, George G; Friedman, Eitan E; Frost, Debra D; Ganschow, Pamela P; Ganz, Patricia A PA; Garber, Judy J; Gayther, Simon A SA; , ; Gerdes, Anne-Marie AM; Glendon, Gord G; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Hansen, Thomas V O TV; Hart, Steven S; Hays, John L JL; , ; Hogervorst, Frans B L FB; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jensen, Uffe Birk UB; John, Esther M EM; Joseph, Vijai V; Just, Walter W; Kaczmarek, Katarzyna K; Karlan, Beth Y BY; , ; Kets, Carolien M CM; Kirk, Judy J; Kriege, Mieke M; Laitman, Yael Y; Laurent, Maïté M; Lazaro, Conxi C; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Liljegren, Annelie A; Loman, Niklas N; Loud, Jennifer T JT; Manoukian, Siranoush S; Mariani, Milena M; Mazoyer, Sylvie S; McGuffog, Lesley L; Meijers-Heijboer, Hanne E J HE; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mulligan, Anna Marie AM; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Nussbaum, Robert L RL; Olah, Edith E; Olopade, Olufunmilayo I OI; Ong, Kai-Ren KR; Oosterwijk, Jan C JC; Osorio, Ana A; Papi, Laura L; Park, Sue Kyung SK; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Segura, Pedro Perez PP; Peterlongo, Paolo P; Phelan, Catherine M CM; Radice, Paolo P; Rantala, Johanna J; Rappaport-Fuerhauser, Christine C; Rennert, Gad G; Richardson, Andrea A; Robson, Mark M; Rodriguez, Gustavo C GC; Rookus, Matti A MA; Schmutzler, Rita Katharina RK; Sevenet, Nicolas N; Shah, Payal D PD; Singer, Christian F CF; Slavin, Thomas P TP; Snape, Katie K; Sokolowska, Johanna J; Sønderstrup, Ida Marie Heeholm IM; Southey, Melissa M; Spurdle, Amanda B AB; Stadler, Zsofia Z; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Sutter, Christian C; Tan, Yen Y; Tea, Muy-Kheng MK; Teixeira, Manuel R MR; Teulé, Alex A; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Tung, Nadine N; van den Ouweland, Ans M W AM; van der Luijt, Rob B RB; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Varon-Mateeva, Raymonda R; Wappenschmidt, Barbara B; Wijnen, Juul T JT; Rebbeck, Timothy T; Chenevix-Trench, Georgia G; Offit, Kenneth K; Couch, Fergus J FJ; Nord, Silje S; Easton, Douglas F DF; Antoniou, Antonis C AC; Simard, Jacques J
Publication Date: 2017-01

Variant appearance in text: rs228595
PubMed Link: 27796716
Variant Present in the following documents:
  • Main text
  • 10549_2016_Article_4018.pdf
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Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One
Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T
Publication Date: 2014

Variant appearance in text: rs228595
PubMed Link: 25010664
Variant Present in the following documents:
  • Main text
  • pone.0101685.pdf
View BVdb publication page