PALB2 c.3436C>T ;(p.Q1146*)

Variant ID: 16-23614905-G-A

NM_024675.3(PALB2):c.3436C>T;(p.Q1146*)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PALB2: 3436C>T; Gln1146Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Zhou, Qing Q; Gampenrieder, Simon P SP; Frantal, Sophie S; Rinnerthaler, Gabriel G; Singer, Christian F CF; Egle, Daniel D; Pfeiler, Georg G; Bartsch, Rupert R; Wette, Viktor V; Pichler, Angelika A; Petru, Edgar E; Dubsky, Peter C PC; Bago-Horvath, Zsuzsanna Z; Fesl, Christian C; Rudas, Margaretha M; Ståhlberg, Anders A; Graf, Ricarda R; Weber, Sabrina S; Dandachi, Nadia N; Filipits, Martin M; Gnant, Michael M; Balic, Marija M; Heitzer, Ellen E
Publication Date: 2022-02-15

Variant appearance in text: PALB2: 3436C>T; Gln1146*
PubMed Link: 34862246
Variant Present in the following documents:
  • ccr-21-3231_table_s2_supps2.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: 3436C>T; Gln1146Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: PALB2: Q1146*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

European Urology
Deek, Matthew P MP; Van der Eecken, Kim K; Phillips, Ryan R; Parikh, Neil R NR; Isaacsson Velho, Pedro P; Lotan, Tamara L TL; Kishan, Amar U AU; Maurer, Tobias T; , ; Boutros, Paul C PC; Hovens, Christopher C; Abramowtiz, Matthew M; Pollack, Alan A; Desai, Neil N; Stish, Bradley B; Feng, Felix Y FY; Eisenberger, Mario M; Carducci, Michael M; Pienta, Kenneth J KJ; Markowski, Mark M; Paller, Channing J CJ; Antonarakis, Emmanuel S ES; Berlin, Alejandro A; Ost, Piet P; Tran, Phuoc T PT
Publication Date: 2021-11

Variant appearance in text: PALB2: Q1146X
PubMed Link: 33419682
Variant Present in the following documents:
  • NIHMS1793749-supplement-20.xlsx, sheet 1
View BVdb publication page



Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Frontiers In Oncology
Pasculli, Barbara B; Barbano, Raffaela R; Fontana, Andrea A; Biagini, Tommaso T; Di Viesti, Maria Pia MP; Rendina, Michelina M; Valori, Vanna Maria VM; Morritti, Maria M; Bravaccini, Sara S; Ravaioli, Sara S; Maiello, Evaristo E; Graziano, Paolo P; Murgo, Roberto R; Copetti, Massimiliano M; Mazza, Tommaso T; Fazio, Vito Michele VM; Esteller, Manel M; Parrella, Paola P
Publication Date: 2020

Variant appearance in text: PALB2: 3436C>T; Gln1146Ter
PubMed Link: 32903519
Variant Present in the following documents:
  • Table_1.xlsx, sheet 7
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PALB2: Q1146*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PALB2: 3436C>T; Q1146*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: PALB2: Q1146*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: PALB2: Gln1146Ter
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PALB2: Q1146*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: PALB2: Q1146*
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PALB2: 3436C>T; Q1146*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PALB2: Q1146*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page