NPAT c.3580G>T ;(p.G1194C)

Variant ID: 11-108032233-C-A

NM_002519.2(NPAT):c.3580G>T;(p.G1194C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: NPAT: 3580G>T; Gly1194Cys
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: NPAT: G1194C
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: NPAT: 3580G>T; Gly1194Cys; rs181187590
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
  • pone.0194098.s003.xlsx, sheet 9
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: rs181187590
PubMed Link: 27796716
Variant Present in the following documents:
  • Main text
  • 10549_2016_Article_4018.pdf
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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: NPAT: 3580G>T; G1194C
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page