BRCA2 c.1688G>A ;(p.W563*)

Variant ID: 13-32907303-G-A

NM_000059.3(BRCA2):c.1688G>A;(p.W563*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 1688G>A
PubMed Link: 36385461
Variant Present in the following documents:
  • Main text
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159.pdf
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
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Role of molecular signature to differentiate second primary lung cancer from metastasis in a patient with squamous cell carcinoma of oral cavity.

Cancer Reports (Hoboken, N.J.)
Yilmaz, Emrullah E; Gan, Gregory N GN; Schroeder, Thomas M TM; Cowan, Andrew A; Joste, Nancy N
Publication Date: 2021-08

Variant appearance in text: BRCA2: W563*
PubMed Link: 34161676
Variant Present in the following documents:
  • Main text
  • CNR2-4-e1363.pdf
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Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment.

Cancer Cell
Wheeler, David A DA; Takebe, Naoko N; Hinoue, Toshinori T; Hoadley, Katherine A KA; Cardenas, Maria F MF; Hamilton, Alina M AM; Laird, Peter W PW; Wang, Linghua L; Johnson, Adrienne A; Dewal, Ninad N; Miller, Vincent V; PiƱeyro, David D; Castro de Moura, Manuel M; Esteller, Manel M; Shen, Hui H; Zenklusen, Jean Claude JC; Tarnuzzer, Roy R; McShane, Lisa M LM; Tricoli, James V JV; Williams, Paul M PM; Lubensky, Irina I; O'Sullivan-Coyne, Geraldine G; Kohn, Elise C EC; Little, Richard F RF; White, Jeffrey J; Malik, Shakun S; Harris, Lyndsay L; Weil, Carol C; Chen, Alice P AP; Karlovich, Chris C; Rodgers, Brian B; Shankar, Lalitha L; Jacobs, Paula P; Nolan, Tracy T; Hu, Jianhong J; Muzny, Donna M DM; Doddapaneni, Harshavardhan H; Korchina, Viktoriya V; Gastier-Foster, Julie J; Bowen, Jay J; Leraas, Kristen K; Edmondson, Elijah F EF; Doroshow, James H JH; Conley, Barbara A BA; Ivy, S Percy SP; Staudt, Louis M LM
Publication Date: 2021-01-11

Variant appearance in text: BRCA2: W563*
PubMed Link: 33217343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 1688G>A; Trp563X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.

Cancer Biology & Medicine
Hu, Xingsheng X; Yang, Dongyong D; Li, Yalun Y; Li, Li L; Wang, Yan Y; Chen, Peng P; Xu, Song S; Pu, Xingxiang X; Zhu, Wei W; Deng, Pengbo P; Ye, Junyi J; Zhang, Hanhan H; Lizaso, Analyn A; Liu, Hao H; Mao, Xinru X; Huang, Hai H; Chu, Qian Q; Hu, Chengping C
Publication Date: 2019-08

Variant appearance in text: BRCA2: 1688G>A; Trp563*
PubMed Link: 31565484
Variant Present in the following documents:
  • Main text
  • cbm-16-3-556.pdf
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Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

Oncotarget
Kwong, Ava A; Ho, John C W JCW; Shin, Vivian Y VY; Kurian, Allison W AW; Tai, Edmund E; Esserman, Laura J LJ; Weitzel, Jeffery N JN; Lin, Po-Han PH; Field, Michael M; Domchek, Susan M SM; Lo, Jessica J; Ngan, Hextan Y S HYS; Ma, Edmond S K ESK; Chan, Tsun L TL; Ford, James M JM
Publication Date: 2018-01-30

Variant appearance in text: BRCA2: 1688G>A
PubMed Link: 29487695
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7832.pdf
View BVdb publication page



High frequency of radiological differential responses with poly(ADP-Ribose) polymerase (PARP) inhibitor therapy.

Oncotarget
Perez-Lopez, Raquel R; Roda, Desam D; Jimenez, Begona B; Brown, Jessica J; Mateo, Joaquin J; Carreira, Suzanne S; Lopez, Juanita J; Banerji, Udai U; Molife, L Rhoda LR; Koh, Dow-Mu DM; Kaye, Stan B SB; de Bono, Johann S JS; Tunariu, Nina N; Yap, Timothy A TA
Publication Date: 2017-11-28

Variant appearance in text: BRCA2: W563*
PubMed Link: 29262651
Variant Present in the following documents:
  • oncotarget-08-104430.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: BRCA2: W563*
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s5.xlsx, sheet 1
View BVdb publication page