BRCA1 c.4793C>T ;(p.S1598F)

Variant ID: 17-41223138-G-A

NM_007294.3(BRCA1):c.4793C>T;(p.S1598F)

This variant was identified in 33 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: BRCA1: S1598F
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Genetically Engineered Mouse Models for Hereditary Cancer Syndromes.

Cancer Science
Biswas, Kajal K; Mohammed, Altaf A; Sharan, Shyam K SK; Shoemaker, Robert H RH
Publication Date: 2023-01-30

Variant appearance in text: BRCA1: S1598F
PubMed Link: 36715493
Variant Present in the following documents:
  • Main text
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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: S1598F
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Bmc Cancer
Hawsawi, Yousef M YM; Shams, Anwar A; Theyab, Abdulrahman A; Abdali, Wed A WA; Hussien, Nahed A NA; Alatwi, Hanan E HE; Alzahrani, Othman R OR; Oyouni, Atif Abdulwahab A AAA; Babalghith, Ahmad O AO; Alreshidi, Mousa M
Publication Date: 2022-06-01

Variant appearance in text: BRCA1: S1598F
PubMed Link: 35650591
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9567.pdf
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Molecular contribution of BRCA1 and BRCA2 to genome instability in breast cancer patients: review of radiosensitivity assays.

Biological Procedures Online
Sadeghi, Fatemeh F; Asgari, Marzieh M; Matloubi, Mojdeh M; Ranjbar, Maral M; Karkhaneh Yousefi, Nahid N; Azari, Tahereh T; Zaki-Dizaji, Majid M
Publication Date: 2020

Variant appearance in text: BRCA1: S1598F
PubMed Link: 33013205
Variant Present in the following documents:
  • Main text
  • 12575_2020_Article_133.pdf
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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: BRCA1: 4793C>T; Ser1598Phe
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1 and homologous recombination: implications from mouse embryonic development.

Cell & Bioscience
Liu, Yidan Y; Lu, Lin-Yu LY
Publication Date: 2020

Variant appearance in text: BRCA1: S1598F
PubMed Link: 32257107
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_412.pdf
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Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Cell Reports
Billon, Pierre P; Nambiar, Tarun S TS; Hayward, Samuel B SB; Zafra, Maria P MP; Schatoff, Emma M EM; Oshima, Koichi K; Dunbar, Andrew A; Breinig, Marco M; Park, Young C YC; Ryu, Han S HS; Tschaharganeh, Darjus F DF; Levine, Ross L RL; Baer, Richard R; Ferrando, Adolfo A; Dow, Lukas E LE; Ciccia, Alberto A
Publication Date: 2020-03-10

Variant appearance in text: BRCA1: S1598F
PubMed Link: 32160537
Variant Present in the following documents:
  • Main text
  • NIHMS1574790-supplement-2.xlsx, sheet 1
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53BP1 loss rescues embryonic lethality but not genomic instability of BRCA1 total knockout mice.

Cell Death And Differentiation
Chen, Jiyuan J; Li, Peng P; Song, Licun L; Bai, Long L; Huen, Michael S Y MSY; Liu, Yidan Y; Lu, Lin-Yu LY
Publication Date: 2020-09

Variant appearance in text: BRCA1: S1598F
PubMed Link: 32139898
Variant Present in the following documents:
  • Main text
  • 41418_2020_Article_521.pdf
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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA1: S1598F
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The BRCT Domains of the BRCA1 and BARD1 Tumor Suppressors Differentially Regulate Homology-Directed Repair and Stalled Fork Protection.

Molecular Cell
Billing, David D; Horiguchi, Michiko M; Wu-Baer, Foon F; Taglialatela, Angelo A; Leuzzi, Giuseppe G; Nanez, Silvia Alvarez SA; Jiang, Wenxia W; Zha, Shan S; Szabolcs, Matthias M; Lin, Chyuan-Sheng CS; Ciccia, Alberto A; Baer, Richard R
Publication Date: 2018-10-04

Variant appearance in text: BRCA1: S1598F
PubMed Link: 30244837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: S1598F
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Gene-Specific Genetic Complementation between Brca1 and Cobra1 During Mouse Mammary Gland Development.

Scientific Reports
Chiang, Huai-Chin HC; Zhang, Xiaowen X; Zhao, Xiayan X; Zhang, Chi C; Chen, Jerry J; Garza, Paula P; Smith, Sabrina S; Ludwig, Thomas T; Baer, Richard J RJ; Li, Rong R; Hu, Yanfen Y
Publication Date: 2018-02-09

Variant appearance in text: BRCA1: S1598F
PubMed Link: 29426838
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21044.pdf
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BRCA1 through Its E3 Ligase Activity Regulates the Transcription Factor Oct1 and Carbohydrate Metabolism.

Molecular Cancer Research : Mcr
Vázquez-Arreguín, Karina K; Maddox, Jessica J; Kang, Jinsuk J; Park, Dongju D; Cano, Reuben R RR; Factor, Rachel E RE; Ludwig, Thomas T; Tantin, Dean D
Publication Date: 2018-03

Variant appearance in text: BRCA1: S1598F
PubMed Link: 29330289
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM loss leads to synthetic lethality in BRCA1 BRCT mutant mice associated with exacerbated defects in homology-directed repair.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Chun-Chin CC; Kass, Elizabeth M EM; Yen, Wei-Feng WF; Ludwig, Thomas T; Moynahan, Mary Ellen ME; Chaudhuri, Jayanta J; Jasin, Maria M
Publication Date: 2017-07-18

Variant appearance in text: BRCA1: S1598F
PubMed Link: 28659469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic instability during reprogramming by nuclear transfer is DNA replication dependent.

Nature Cell Biology
Chia, Gloryn G; Agudo, Judith J; Treff, Nathan N; Sauer, Mark V MV; Billing, David D; Brown, Brian D BD; Baer, Richard R; Egli, Dieter D
Publication Date: 2017-04

Variant appearance in text: BRCA1: S1598F
PubMed Link: 28263958
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating Gene Correction in the Reprogramming and Transdifferentiation Processes: A One-Step Strategy to Overcome Stem Cell-Based Gene Therapy Limitations.

Stem Cells International
Lee, Seo-Young SY; Chung, Sun-Ku SK
Publication Date: 2016

Variant appearance in text: BRCA1: S1598F
PubMed Link: 28074097
Variant Present in the following documents:
  • Main text
View BVdb publication page



And-1 coordinates with CtIP for efficient homologous recombination and DNA damage checkpoint maintenance.

Nucleic Acids Research
Chen, Yali Y; Liu, Hailong H; Zhang, Haoxing H; Sun, Changqing C; Hu, Zhaohua Z; Tian, Qingsong Q; Peng, Changmin C; Jiang, Pei P; Hua, Hui H; Li, Xinzhi X; Pei, Huadong H
Publication Date: 2017-03-17

Variant appearance in text: BRCA1: S1598F
PubMed Link: 27940552
Variant Present in the following documents:
  • Main text
  • gkw1212.pdf
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Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.

Breast Cancer Research : Bcr
Chehade, Rania R; Pettapiece-Phillips, Rachael R; Salmena, Leonardo L; Kotlyar, Max M; Jurisica, Igor I; Narod, Steven A SA; Akbari, Mohammad R MR; Kotsopoulos, Joanne J
Publication Date: 2016-08-17

Variant appearance in text: BRCA1: S1598F
PubMed Link: 27534398
Variant Present in the following documents:
  • Main text
  • 13058_2016_Article_739.pdf
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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: BRCA1: S1598F
PubMed Link: 27304073
Variant Present in the following documents:
  • Main text
  • elife-14709.pdf
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BRCA1 and Its Network of Interacting Partners.

Biology
Christou, Charita M CM; Kyriacou, Kyriacos K
Publication Date: 2013-01-02

Variant appearance in text: BRCA1: S1598F
PubMed Link: 24832651
Variant Present in the following documents:
  • Main text
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BRCA1 and Oxidative Stress.

Cancers
Yi, Yong Weon YW; Kang, Hyo Jin HJ; Bae, Insoo I
Publication Date: 2014-04-03

Variant appearance in text: BRCA1: S1598F
PubMed Link: 24704793
Variant Present in the following documents:
  • Main text
  • cancers-06-00771.pdf
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Co-operation of BRCA1 and POH1 relieves the barriers posed by 53BP1 and RAP80 to resection.

Nucleic Acids Research
Kakarougkas, Andreas A; Ismail, Amani A; Katsuki, Yoko Y; Freire, Raimundo R; Shibata, Atsushi A; Jeggo, Penny A PA
Publication Date: 2013-12

Variant appearance in text: BRCA1: S1598F
PubMed Link: 24013561
Variant Present in the following documents:
  • Main text
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BRCA1 promotes the ubiquitination of PCNA and recruitment of translesion polymerases in response to replication blockade.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tian, Fen F; Sharma, Shilpy S; Zou, Jianqiu J; Lin, Shiaw-Yih SY; Wang, Bin B; Rezvani, Khosrow K; Wang, Hongmin H; Parvin, Jeffrey D JD; Ludwig, Thomas T; Canman, Christine E CE; Zhang, Dong D
Publication Date: 2013-08-13

Variant appearance in text: BRCA1: S1598F
PubMed Link: 23901102
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 in the DNA damage response and at telomeres.

Frontiers In Genetics
Rosen, Eliot M EM
Publication Date: 2013

Variant appearance in text: BRCA1: S1598F
PubMed Link: 23802008
Variant Present in the following documents:
  • Main text
  • fgene-04-00085.pdf
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The interaction between CtIP and BRCA1 is not essential for resection-mediated DNA repair or tumor suppression.

The Journal Of Cell Biology
Reczek, Colleen R CR; Szabolcs, Matthias M; Stark, Jeremy M JM; Ludwig, Thomas T; Baer, Richard R
Publication Date: 2013-05-27

Variant appearance in text: BRCA1: S1598F
PubMed Link: 23712259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

Cancer Discovery
Domchek, Susan M SM; Tang, Jiangbo J; Stopfer, Jill J; Lilli, Dana R DR; Hamel, Nancy N; Tischkowitz, Marc M; Monteiro, Alvaro N A AN; Messick, Troy E TE; Powers, Jacquelyn J; Yonker, Alexandria A; Couch, Fergus J FJ; Goldgar, David E DE; Davidson, H Rosemarie HR; Nathanson, Katherine L KL; Foulkes, William D WD; Greenberg, Roger A RA
Publication Date: 2013-04

Variant appearance in text: BRCA1: Ser1598Phe
PubMed Link: 23269703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of BRCA1 tumor suppression.

Cancer Discovery
Silver, Daniel P DP; Livingston, David M DM
Publication Date: 2012-08

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22843421
Variant Present in the following documents:
  • Main text
View BVdb publication page



Links between genome integrity and BRCA1 tumor suppression.

Trends In Biochemical Sciences
Li, Mischa L ML; Greenberg, Roger A RA
Publication Date: 2012-10

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22836122
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 as tumor suppressor: lord without its RING?

Breast Cancer Research : Bcr
Elia, Andrew E H AE; Elledge, Stephen J SJ
Publication Date: 2012-04-10

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22494569
Variant Present in the following documents:
  • Main text
  • bcr3118.pdf
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BRCA1 tumor suppressor network: focusing on its tail.

Cell & Bioscience
Wang, Bin B
Publication Date: 2012-02-27

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22369660
Variant Present in the following documents:
  • Main text
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BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity.

Science (New York, N.Y.)
Shakya, Reena R; Reid, Latarsha J LJ; Reczek, Colleen R CR; Cole, Francesca F; Egli, Dieter D; Lin, Chyuan-Sheng CS; deRooij, Dirk G DG; Hirsch, Steffen S; Ravi, Kandasamy K; Hicks, James B JB; Szabolcs, Matthias M; Jasin, Maria M; Baer, Richard R; Ludwig, Thomas T
Publication Date: 2011-10-28

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22034435
Variant Present in the following documents:
  • Main text
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Cancer. BRCA1, everything but the RING?

Science (New York, N.Y.)
Greenberg, Roger A RA
Publication Date: 2011-10-28

Variant appearance in text: BRCA1: S1598F
PubMed Link: 22034420
Variant Present in the following documents:
  • Main text
View BVdb publication page