BRCA2 c.5943_5944insT ;(p.S1982*)

Variant ID: 13-32914435-A-AT

NM_000059.3(BRCA2):c.5943_5944insT;(p.S1982*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.

International Journal Of Molecular Sciences
Savkova, Alina A; Gulyaeva, Lyudmila L; Gerasimov, Aleksey A; Krasil'nikov, Sergey S
Publication Date: 2023-04-04

Variant appearance in text: N/A
PubMed Link: 37047678
Variant Present in the following documents:
View BVdb publication page



Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

The Journal Of Pathology
Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA
Publication Date: 2022-07

Variant appearance in text: N/A
PubMed Link: 35220606
Variant Present in the following documents:
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: N/A
PubMed Link: 35171259
Variant Present in the following documents:
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: N/A
PubMed Link: 35171259
Variant Present in the following documents:
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: N/A
PubMed Link: 34253785
Variant Present in the following documents:
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: N/A
PubMed Link: 33630025
Variant Present in the following documents:
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: N/A
PubMed Link: 31645765
Variant Present in the following documents:
View BVdb publication page



Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.

Cancer Discovery
Aguirre, Andrew J AJ; Nowak, Jonathan A JA; Camarda, Nicholas D ND; Moffitt, Richard A RA; Ghazani, Arezou A AA; Hazar-Rethinam, Mehlika M; Raghavan, Srivatsan S; Kim, Jaegil J; Brais, Lauren K LK; Ragon, Dorisanne D; Welch, Marisa W MW; Reilly, Emma E; McCabe, Devin D; Marini, Lori L; Anderka, Kristin K; Helvie, Karla K; Oliver, Nelly N; Babic, Ana A; Da Silva, Annacarolina A; Nadres, Brandon B; Van Seventer, Emily E EE; Shahzade, Heather A HA; St Pierre, Joseph P JP; Burke, Kelly P KP; Clancy, Thomas T; Cleary, James M JM; Doyle, Leona A LA; Jajoo, Kunal K; McCleary, Nadine J NJ; Meyerhardt, Jeffrey A JA; Murphy, Janet E JE; Ng, Kimmie K; Patel, Anuj K AK; Perez, Kimberly K; Rosenthal, Michael H MH; Rubinson, Douglas A DA; Ryou, Marvin M; Shapiro, Geoffrey I GI; Sicinska, Ewa E; Silverman, Stuart G SG; Nagy, Rebecca J RJ; Lanman, Richard B RB; Knoerzer, Deborah D; Welsch, Dean J DJ; Yurgelun, Matthew B MB; Fuchs, Charles S CS; Garraway, Levi A LA; Getz, Gad G; Hornick, Jason L JL; Johnson, Bruce E BE; Kulke, Matthew H MH; Mayer, Robert J RJ; Miller, Jeffrey W JW; Shyn, Paul B PB; Tuveson, David A DA; Wagle, Nikhil N; Yeh, Jen Jen JJ; Hahn, William C WC; Corcoran, Ryan B RB; Carter, Scott L SL; Wolpin, Brian M BM
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29903880
Variant Present in the following documents:
View BVdb publication page



Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.

European Urology
Antonarakis, Emmanuel S ES; Lu, Changxue C; Luber, Brandon B; Liang, Chao C; Wang, Hao H; Chen, Yan Y; Silberstein, John L JL; Piana, Danilo D; Lai, Zhao Z; Chen, Yidong Y; Isaacs, William B WB; Luo, Jun J
Publication Date: 2018-08

Variant appearance in text: BRCA2: S1982*fs
PubMed Link: 29439820
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Nature Communications
Maxwell, Kara N KN; Wubbenhorst, Bradley B; Wenz, Brandon M BM; De Sloover, Daniel D; Pluta, John J; Emery, Lyndsey L; Barrett, Amanda A; Kraya, Adam A AA; Anastopoulos, Ioannis N IN; Yu, Shun S; Jiang, Yuchao Y; Chen, Hao H; Zhang, Nancy R NR; Hackman, Nicole N; D'Andrea, Kurt K; Daber, Robert R; Morrissette, Jennifer J D JJD; Mitra, Nandita N; Feldman, Michael M; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2017-08-22

Variant appearance in text: BRCA2: S1982fs
PubMed Link: 28831036
Variant Present in the following documents:
  • 41467_2017_388_MOESM1_ESM.pdf
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: N/A
PubMed Link: 26689913
Variant Present in the following documents:
View BVdb publication page



Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine
Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS
Publication Date: 2015-01

Variant appearance in text: N/A
PubMed Link: 26023681
Variant Present in the following documents:
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: BRCA2: S1982fs
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-13.xlsx, sheet 1
  • NIHMS551112-supplement-6.xlsx, sheet 1
View BVdb publication page



Integrated genomic analyses of ovarian carcinoma.

Nature
,
Publication Date: 2011-06-29

Variant appearance in text: N/A
PubMed Link: 21720365
Variant Present in the following documents:
View BVdb publication page