APOBEC3A c.470-66A>C

Variant ID: 22-39358037-A-C

NM_145699.3(APOBEC3A):c.470-66A>C

This variant was identified in 30 publications

View GRCh38 version.




Publications:


APOBEC3-mediated mutagenesis in cancer: causes, clinical significance and therapeutic potential.

Journal Of Hematology & Oncology
Butler, Kelly K; Banday, A Rouf AR
Publication Date: 2023-03-28

Variant appearance in text: rs12628403
PubMed Link: 36978147
Variant Present in the following documents:
  • Main text
  • 13045_2023_Article_1425.pdf
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FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01

Variant appearance in text: rs12628403
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8
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APOBEC3A/B deletion polymorphism and endometrial cancer risk.

Cancer Medicine
Sofiyeva, Nigar N; Krakstad, Camilla C; Halle, Mari K MK; O'Mara, Tracy A TA; Romundstad, Pål P; Hveem, Kristian K; Vatten, Lars L; Lønning, Per E PE; Gansmo, Liv B LB; Knappskog, Stian S
Publication Date: 2022-11-16

Variant appearance in text: rs12628403
PubMed Link: 36394079
Variant Present in the following documents:
  • Main text
  • CAM4-12-6659.pdf
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Somatic mutational profiles and germline polygenic risk scores in human cancer.

Genome Medicine
Liu, Yuxi Y; Gusev, Alexander A; Heng, Yujing J YJ; Alexandrov, Ludmil B LB; Kraft, Peter P
Publication Date: 2022-02-11

Variant appearance in text: rs12628403
PubMed Link: 35144655
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1016.pdf
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Somatic mutational profiles and germline polygenic risk scores in human cancer.

Genome Medicine
Liu, Yuxi Y; Gusev, Alexander A; Heng, Yujing J YJ; Alexandrov, Ludmil B LB; Kraft, Peter P
Publication Date: 2022-02-11

Variant appearance in text: rs12628403
PubMed Link: 35144655
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1016.pdf
View BVdb publication page



Comparison of somatic mutation landscapes in Chinese versus European breast cancer patients.

Hgg Advances
Zhu, Bin B; Joo, Lijin L; Zhang, Tongwu T; Koka, Hela H; Lee, DongHyuk D; Shi, Jianxin J; Lee, Priscilla P; Wang, Difei D; Wang, Feng F; Chan, Wing-Cheong WC; Law, Sze Hong SH; Tsoi, Yee-Kei YK; Tse, Gary M GM; Lai, Shui Wun SW; Wu, Cherry C; Yang, Shuyuan S; Yang Chan, Emily Ying EY; Shan Wong, Samuel Yeung SY; Wang, Mingyi M; Song, Lei L; Jones, Kristine K; Zhu, Bin B; Hutchinson, Amy A; Hicks, Belynda B; Prokunina-Olsson, Ludmila L; Garcia-Closas, Montserrat M; Chanock, Stephen S; Tse, Lap Ah LA; Yang, Xiaohong R XR
Publication Date: 2022-01-13

Variant appearance in text: rs12628403
PubMed Link: 35047861
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.

Scientific Reports
Gansmo, Liv B LB; Sofiyeva, Nigar N; Bjørnslett, Merete M; Romundstad, Pål P; Hveem, Kristian K; Vatten, Lars L; Dørum, Anne A; Lønning, Per E PE; Knappskog, Stian S
Publication Date: 2021-12-06

Variant appearance in text: rs12628403
PubMed Link: 34873230
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2820.pdf
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Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.

Scientific Reports
Gansmo, Liv B LB; Sofiyeva, Nigar N; Bjørnslett, Merete M; Romundstad, Pål P; Hveem, Kristian K; Vatten, Lars L; Dørum, Anne A; Lønning, Per E PE; Knappskog, Stian S
Publication Date: 2021-12-06

Variant appearance in text: rs12628403
PubMed Link: 34873230
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2820.pdf
View BVdb publication page



Effect of APOBEC3A functional polymorphism on renal cell carcinoma is influenced by tumor necrosis factor-α and transcriptional repressor ETS1.

American Journal Of Cancer Research
Tan, Xiaojie X; Zheng, Shaoling S; Liu, Wenbin W; Liu, Yan Y; Kang, Zhengchun Z; Li, Zishuai Z; Li, Peng P; Song, Jiahui J; Hou, Jianguo J; Yang, Bo B; Han, Xue X; Wang, Fubo F; Jing, Chunxia C; Cao, Guangwen G
Publication Date: 2021

Variant appearance in text: rs12628403
PubMed Link: 34659891
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human APOBEC3 Variations and Viral Infection.

Viruses
Sadeghpour, Shiva S; Khodaee, Saeideh S; Rahnama, Mostafa M; Rahimi, Hamzeh H; Ebrahimi, Diako D
Publication Date: 2021-07-14

Variant appearance in text: rs12628403
PubMed Link: 34372572
Variant Present in the following documents:
  • Main text
  • viruses-13-01366.pdf
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Targeting natural splicing plasticity of APOBEC3B restricts its expression and mutagenic activity.

Communications Biology
Rouf Banday, A A; Onabajo, Olusegun O OO; Lin, Seraph Han-Yin SH; Obajemu, Adeola A; Vargas, Joselin M JM; Delviks-Frankenberry, Krista A KA; Lamy, Philippe P; Bayanjargal, Ariunaa A; Zettelmeyer, Clara C; Florez-Vargas, Oscar O; Pathak, Vinay K VK; Dyrskjøt, Lars L; Prokunina-Olsson, Ludmila L
Publication Date: 2021-03-22

Variant appearance in text: rs12628403
PubMed Link: 33753867
Variant Present in the following documents:
  • Main text
View BVdb publication page



European polygenic risk score for prediction of breast cancer shows similar performance in Asian women.

Nature Communications
Ho, Weang-Kee WK; Tan, Min-Min MM; Mavaddat, Nasim N; Tai, Mei-Chee MC; Mariapun, Shivaani S; Li, Jingmei J; Ho, Peh-Joo PJ; Dennis, Joe J; Tyrer, Jonathan P JP; Bolla, Manjeet K MK; Michailidou, Kyriaki K; Wang, Qin Q; Kang, Daehee D; Choi, Ji-Yeob JY; Jamaris, Suniza S; Shu, Xiao-Ou XO; Yoon, Sook-Yee SY; Park, Sue K SK; Kim, Sung-Won SW; Shen, Chen-Yang CY; Yu, Jyh-Cherng JC; Tan, Ern Yu EY; Chan, Patrick Mun Yew PMY; Muir, Kenneth K; Lophatananon, Artitaya A; Wu, Anna H AH; Stram, Daniel O DO; Matsuo, Keitaro K; Ito, Hidemi H; Chan, Ching Wan CW; Ngeow, Joanne J; Yong, Wei Sean WS; Lim, Swee Ho SH; Lim, Geok Hoon GH; Kwong, Ava A; Chan, Tsun L TL; Tan, Su Ming SM; Seah, Jaime J; John, Esther M EM; Kurian, Allison W AW; Koh, Woon-Puay WP; Khor, Chiea Chuen CC; Iwasaki, Motoki M; Yamaji, Taiki T; Tan, Kiak Mien Veronique KMV; Tan, Kiat Tee Benita KTB; Spinelli, John J JJ; Aronson, Kristan J KJ; Hasan, Siti Norhidayu SN; Rahmat, Kartini K; Vijayananthan, Anushya A; Sim, Xueling X; Pharoah, Paul D P PDP; Zheng, Wei W; Dunning, Alison M AM; Simard, Jacques J; van Dam, Rob Martinus RM; Yip, Cheng-Har CH; Taib, Nur Aishah Mohd NAM; Hartman, Mikael M; Easton, Douglas F DF; Teo, Soo-Hwang SH; Antoniou, Antonis C AC
Publication Date: 2020-07-31

Variant appearance in text: rs12628403
PubMed Link: 32737321
Variant Present in the following documents:
  • 41467_2020_17680_MOESM1_ESM.pdf
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Pan-cancer analysis of whole genomes.

Nature
,
Publication Date: 2020-02

Variant appearance in text: rs12628403
PubMed Link: 32025007
Variant Present in the following documents:
  • Main text
  • 41586_2020_Article_1969.pdf
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APOBEC3B expression in breast cancer cell lines and tumors depends on the estrogen receptor status.

Carcinogenesis
Udquim, Krizia-Ivana KI; Zettelmeyer, Clara C; Banday, A Rouf AR; Lin, Seraph Han-Yin SH; Prokunina-Olsson, Ludmila L
Publication Date: 2020-08-12

Variant appearance in text: rs12628403
PubMed Link: 31930332
Variant Present in the following documents:
  • Main text
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: APOBEC3A: 470-66A>C; rs12628403
PubMed Link: 31911677
Variant Present in the following documents:
  • EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 4
View BVdb publication page



Immune gene expression profiling reveals heterogeneity in luminal breast tumors.

Breast Cancer Research : Bcr
Zhu, Bin B; Tse, Lap Ah LA; Wang, Difei D; Koka, Hela H; Zhang, Tongwu T; Abubakar, Mustapha M; Lee, Priscilla P; Wang, Feng F; Wu, Cherry C; Tsang, Koon Ho KH; Chan, Wing-Cheong WC; Law, Sze Hong SH; Li, Mengjie M; Li, Wentao W; Wu, Suyang S; Liu, Zhiguang Z; Huang, Bixia B; Zhang, Han H; Tang, Eric E; Kan, Zhengyan Z; Lee, Soohyeon S; Park, Yeon Hee YH; Nam, Seok Jin SJ; Wang, Mingyi M; Sun, Xuezheng X; Jones, Kristine K; Zhu, Bin B; Hutchinson, Amy A; Hicks, Belynda B; Prokunina-Olsson, Ludmila L; Shi, Jianxin J; Garcia-Closas, Montserrat M; Chanock, Stephen S; Yang, Xiaohong R XR
Publication Date: 2019-12-19

Variant appearance in text: rs12628403
PubMed Link: 31856876
Variant Present in the following documents:
  • Main text
  • 13058_2019_Article_1218.pdf
View BVdb publication page



Genomic analyses of PMBL reveal new drivers and mechanisms of sensitivity to PD-1 blockade.

Blood
Chapuy, Bjoern B; Stewart, Chip C; Dunford, Andrew J AJ; Kim, Jaegil J; Wienand, Kirsty K; Kamburov, Atanas A; Griffin, Gabriel K GK; Chen, Pei-Hsuan PH; Lako, Ana A; Redd, Robert A RA; Cote, Claire M CM; Ducar, Matthew D MD; Thorner, Aaron R AR; Rodig, Scott J SJ; Getz, Gad G; Shipp, Margaret A MA
Publication Date: 2019-12-26

Variant appearance in text: rs12628403
PubMed Link: 31697821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative genomic analyses of APOBEC-mutational signature, expression and germline deletion of APOBEC3 genes, and immunogenicity in multiple cancer types.

Bmc Medical Genomics
Chen, Zhishan Z; Wen, Wanqing W; Bao, Jiandong J; Kuhs, Krystle L KL; Cai, Qiuyin Q; Long, Jirong J; Shu, Xiao-Ou XO; Zheng, Wei W; Guo, Xingyi X
Publication Date: 2019-09-18

Variant appearance in text: rs12628403
PubMed Link: 31533728
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_579.pdf
View BVdb publication page



Germline Variants Impact Somatic Events during Tumorigenesis.

Trends In Genetics : Tig
Ramroop, Johnny R JR; Gerber, Madelyn M MM; Toland, Amanda Ewart AE
Publication Date: 2019-07

Variant appearance in text: rs12628403
PubMed Link: 31128889
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Cell Reports
Roper, Nitin N; Gao, Shaojian S; Maity, Tapan K TK; Banday, A Rouf AR; Zhang, Xu X; Venugopalan, Abhilash A; Cultraro, Constance M CM; Patidar, Rajesh R; Sindiri, Sivasish S; Brown, Anna-Leigh AL; Goncearenco, Alexander A; Panchenko, Anna R AR; Biswas, Romi R; Thomas, Anish A; Rajan, Arun A; Carter, Corey A CA; Kleiner, David E DE; Hewitt, Stephen M SM; Khan, Javed J; Prokunina-Olsson, Ludmila L; Guha, Udayan U
Publication Date: 2019-03-05

Variant appearance in text: rs12628403
PubMed Link: 30840888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs12628403
PubMed Link: 30811755
Variant Present in the following documents:
  • Main text
  • CAS-110-1760.pdf
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BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.

Scientific Reports
Lee, Joo-Yeon JY; Kim, Jisun J; Kim, Sung-Won SW; Park, Sue K SK; Ahn, Sei Hyun SH; Lee, Min Hyuk MH; Suh, Young Jin YJ; Noh, Dong-Young DY; Son, Byung Ho BH; Cho, Young Up YU; Lee, Sae Byul SB; Lee, Jong Won JW; Hopper, John L JL; Sung, Joohon J
Publication Date: 2018-10-15

Variant appearance in text: rs12628403
PubMed Link: 30323354
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_31859.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: APOBEC3A: 470-66A>C; rs12628403
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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APOBEC3A/B deletion polymorphism and cancer risk.

Carcinogenesis
Gansmo, Liv B LB; Romundstad, Paal P; Hveem, Kristian K; Vatten, Lars L; Nik-Zainal, Serena S; Lønning, Per Eystein PE; Knappskog, Stian S
Publication Date: 2018-02-09

Variant appearance in text: rs12628403
PubMed Link: 29140415
Variant Present in the following documents:
  • Main text
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The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population.

Oncotarget
Klonowska, Katarzyna K; Kluzniak, Wojciech W; Rusak, Bogna B; Jakubowska, Anna A; Ratajska, Magdalena M; Krawczynska, Natalia N; Vasilevska, Danuta D; Czubak, Karol K; Wojciechowska, Marzena M; Cybulski, Cezary C; Lubinski, Jan J; Kozlowski, Piotr P
Publication Date: 2017-09-29

Variant appearance in text: rs12628403
PubMed Link: 29100317
Variant Present in the following documents:
  • Main text
  • oncotarget-08-76357.pdf
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Association analysis identifies 65 new breast cancer risk loci.

Nature
Michailidou, Kyriaki K; Lindström, Sara S; Dennis, Joe J; Beesley, Jonathan J; Hui, Shirley S; Kar, Siddhartha S; Lemaçon, Audrey A; Soucy, Penny P; Glubb, Dylan D; Rostamianfar, Asha A; Bolla, Manjeet K MK; Wang, Qin Q; Tyrer, Jonathan J; Dicks, Ed E; Lee, Andrew A; Wang, Zhaoming Z; Allen, Jamie J; Keeman, Renske R; Eilber, Ursula U; French, Juliet D JD; Qing Chen, Xiao X; Fachal, Laura L; McCue, Karen K; McCart Reed, Amy E AE; Ghoussaini, Maya M; Carroll, Jason S JS; Jiang, Xia X; Finucane, Hilary H; Adams, Marcia M; Adank, Muriel A MA; Ahsan, Habibul H; Aittomäki, Kristiina K; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu B; Auer, Paul L PL; Bacot, François F; Barrdahl, Myrto M; Baynes, Caroline C; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Bernstein, Leslie L; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Børresen-Dale, Anne-Lise AL; Brand, Judith S JS; Brauch, Hiltrud H; Brennan, Paul P; Brenner, Hermann H; Brinton, Louise L; Broberg, Per P; Brock, Ian W IW; Broeks, Annegien A; Brooks-Wilson, Angela A; Brucker, Sara Y SY; Brüning, Thomas T; Burwinkel, Barbara B; Butterbach, Katja K; Cai, Qiuyin Q; Cai, Hui H; Caldés, Trinidad T; Canzian, Federico F; Carracedo, Angel A; Carter, Brian D BD; Castelao, Jose E JE; Chan, Tsun L TL; David Cheng, Ting-Yuan TY; Seng Chia, Kee K; Choi, Ji-Yeob JY; Christiansen, Hans H; Clarke, Christine L CL; , ; Collée, Margriet M; Conroy, Don M DM; Cordina-Duverger, Emilie E; Cornelissen, Sten S; Cox, David G DG; Cox, Angela A; Cross, Simon S SS; Cunningham, Julie M JM; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Doheny, Kimberly F KF; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dumont, Martine M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eliassen, A Heather AH; Ellberg, Carolina C; Elvira, Mingajeva M; Engel, Christoph C; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Flesch-Janys, Dieter D; Fletcher, Olivia O; Flyger, Henrik H; Fritschi, Lin L; Gaborieau, Valerie V; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gao, Yu-Tang YT; Gapstur, Susan M SM; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Grenaker Alnæs, Grethe I GI; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Haeberle, Lothar L; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hamann, Ute U; Hamel, Nathalie N; Hankinson, Susan S; Harrington, Patricia P; Hart, Steven N SN; Hartikainen, Jaana M JM; Hartman, Mikael M; Hein, Alexander A; Heyworth, Jane J; Hicks, Belynda B; Hillemanns, Peter P; Ho, Dona N DN; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hoover, Robert N RN; Hopper, John L JL; Hou, Ming-Feng MF; Hsiung, Chia-Ni CN; Huang, Guanmengqian G; Humphreys, Keith K; Ishiguro, Junko J; Ito, Hidemi H; Iwasaki, Motoki M; Iwata, Hiroji H; Jakubowska, Anna A; Janni, Wolfgang W; John, Esther M EM; Johnson, Nichola N; Jones, Kristine K; Jones, Michael M; Jukkola-Vuorinen, Arja A; Kaaks, Rudolf R; Kabisch, Maria M; Kaczmarek, Katarzyna K; Kang, Daehee D; Kasuga, Yoshio Y; Kerin, Michael J MJ; Khan, Sofia S; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kim, Sung-Won SW; Knight, Julia A JA; Kosma, Veli-Matti VM; Kristensen, Vessela N VN; Krüger, Ute U; Kwong, Ava A; Lambrechts, Diether D; Le Marchand, Loic L; Lee, Eunjung E; Lee, Min Hyuk MH; Lee, Jong Won JW; Neng Lee, Chuen C; Lejbkowicz, Flavio F; Li, Jingmei J; Lilyquist, Jenna J; Lindblom, Annika A; Lissowska, Jolanta J; Lo, Wing-Yee WY; Loibl, Sibylle S; Long, Jirong J; Lophatananon, Artitaya A; Lubinski, Jan J; Luccarini, Craig C; Lux, Michael P MP; Ma, Edmond S K ESK; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Malone, Kathleen E KE; Kostovska, Ivana Maleva IM; Mannermaa, Arto A; Manoukian, Siranoush S; Manson, JoAnn E JE; Margolin, Sara S; Mariapun, Shivaani S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Mavroudis, Dimitrios D; McKay, James J; McLean, Catriona C; Meijers-Heijboer, Hanne H; Meindl, Alfons A; Menéndez, Primitiva P; Menon, Usha U; Meyer, Jeffery J; Miao, Hui H; Miller, Nicola N; Taib, Nur Aishah Mohd NAM; Muir, Kenneth K; Mulligan, Anna Marie AM; Mulot, Claire C; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Sune F SF; Noh, Dong-Young DY; Nordestgaard, Børge G BG; Norman, Aaron A; Olopade, Olufunmilayo I OI; Olson, Janet E JE; Olsson, Håkan H; Olswold, Curtis C; Orr, Nick N; Pankratz, V Shane VS; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Lloyd, Rachel R; Perez, Jose I A JIA; Peterlongo, Paolo P; Peto, Julian J; Phillips, Kelly-Anne KA; Pinchev, Mila M; Plaseska-Karanfilska, Dijana D; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pugh, Elizabeth E; Pylkäs, Katri K; Rack, Brigitte B; Radice, Paolo P; Rahman, Nazneen N; Rennert, Gadi G; Rennert, Hedy S HS; Rhenius, Valerie V; Romero, Atocha A; Romm, Jane J; Ruddy, Kathryn J KJ; Rüdiger, Thomas T; Rudolph, Anja A; Ruebner, Matthias M; Rutgers, Emiel J T EJT; Saloustros, Emmanouil E; Sandler, Dale P DP; Sangrajrang, Suleeporn S; Sawyer, Elinor J EJ; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schumacher, Fredrick F; Schürmann, Peter P; Scott, Rodney J RJ; Scott, Christopher C; Seal, Sheila S; Seynaeve, Caroline C; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Sheng, Grace G; Sherman, Mark E ME; Shrubsole, Martha J MJ; Shu, Xiao-Ou XO; Smeets, Ann A; Sohn, Christof C; Southey, Melissa C MC; Spinelli, John J JJ; Stegmaier, Christa C; Stewart-Brown, Sarah S; Stone, Jennifer J; Stram, Daniel O DO; Surowy, Harald H; Swerdlow, Anthony A; Tamimi, Rulla R; Taylor, Jack A JA; Tengström, Maria M; Teo, Soo H SH; Beth Terry, Mary M; Tessier, Daniel C DC; Thanasitthichai, Somchai S; Thöne, Kathrin K; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Tong, Ling L; Torres, Diana D; Truong, Thérèse T; Tseng, Chiu-Chen CC; Tsugane, Shoichiro S; Ulmer, Hans-Ulrich HU; Ursin, Giske G; Untch, Michael M; Vachon, Celine C; van Asperen, Christi J CJ; Van Den Berg, David D; van den Ouweland, Ans M W AMW; van der Kolk, Lizet L; van der Luijt, Rob B RB; Vincent, Daniel D; Vollenweider, Jason J; Waisfisz, Quinten Q; Wang-Gohrke, Shan S; Weinberg, Clarice R CR; Wendt, Camilla C; Whittemore, Alice S AS; Wildiers, Hans H; Willett, Walter W; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Xia, Lucy L; Yamaji, Taiki T; Yang, Xiaohong R XR; Har Yip, Cheng C; Yoo, Keun-Young KY; Yu, Jyh-Cherng JC; Zheng, Wei W; Zheng, Ying Y; Zhu, Bin B; Ziogas, Argyrios A; Ziv, Elad E; , ; , ; Lakhani, Sunil R SR; Antoniou, Antonis C AC; Droit, Arnaud A; Andrulis, Irene L IL; Amos, Christopher I CI; Couch, Fergus J FJ; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; Hall, Per P; Hunter, David J DJ; Milne, Roger L RL; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Chanock, Stephen J SJ; Dunning, Alison M AM; Edwards, Stacey L SL; Bader, Gary D GD; Chenevix-Trench, Georgia G; Simard, Jacques J; Kraft, Peter P; Easton, Douglas F DF
Publication Date: 2017-11-02

Variant appearance in text: rs12628403
PubMed Link: 29059683
Variant Present in the following documents:
  • Main text
  • emss-74191.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs12628403
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors.

Nature Genetics
Middlebrooks, Candace D CD; Banday, A Rouf AR; Matsuda, Konichi K; Udquim, Krizia-Ivana KI; Onabajo, Olusegun O OO; Paquin, Ashley A; Figueroa, Jonine D JD; Zhu, Bin B; Koutros, Stella S; Kubo, Michiaki M; Shuin, Taro T; Freedman, Neal D ND; Kogevinas, Manolis M; Malats, Nuria N; Chanock, Stephen J SJ; Garcia-Closas, Montserrat M; Silverman, Debra T DT; Rothman, Nathaniel N; Prokunina-Olsson, Ludmila L
Publication Date: 2016-11

Variant appearance in text: rs12628403
PubMed Link: 27643540
Variant Present in the following documents:
  • Main text
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PExFInS: An Integrative Post-GWAS Explorer for Functional Indels and SNPs.

Scientific Reports
Cheng, Zhongshan Z; Chu, Hin H; Fan, Yanhui Y; Li, Cun C; Song, You-Qiang YQ; Zhou, Jie J; Yuen, Kwok-Yung KY
Publication Date: 2015-11-27

Variant appearance in text: rs12628403
PubMed Link: 26612672
Variant Present in the following documents:
  • Main text
  • srep17302.pdf
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Large multiallelic copy number variations in humans.

Nature Genetics
Handsaker, Robert E RE; Van Doren, Vanessa V; Berman, Jennifer R JR; Genovese, Giulio G; Kashin, Seva S; Boettger, Linda M LM; McCarroll, Steven A SA
Publication Date: 2015-03

Variant appearance in text: rs12628403
PubMed Link: 25621458
Variant Present in the following documents:
  • NIHMS652484-supplement-1.pdf
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Hereditary breast cancer: ever more pieces to the polygenic puzzle.

Hereditary Cancer In Clinical Practice
Bogdanova, Natalia N; Helbig, Sonja S; Dörk, Thilo T
Publication Date: 2013-09-11

Variant appearance in text: rs12628403
PubMed Link: 24025454
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-12.pdf
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A common deletion in the APOBEC3 genes and breast cancer risk.

Journal Of The National Cancer Institute
Long, Jirong J; Delahanty, Ryan J RJ; Li, Guoliang G; Gao, Yu-Tang YT; Lu, Wei W; Cai, Qiuyin Q; Xiang, Yong-Bing YB; Li, Chun C; Ji, Bu-Tian BT; Zheng, Ying Y; Ali, Simak S; Shu, Xiao-Ou XO; Zheng, Wei W
Publication Date: 2013-04-17

Variant appearance in text: rs12628403
PubMed Link: 23411593
Variant Present in the following documents:
  • Main text
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