BRCA1 c.*1287C>T

Variant ID: 17-41196408-G-A

NM_007294.3(BRCA1):c.*1287C>T

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: rs12516
PubMed Link: 36632296
Variant Present in the following documents:
  • Main text
  • rpor-27-6-1045.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12516
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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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: rs12516
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s009.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 1
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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs12516
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.

Frontiers In Genetics
Chhichholiya, Yogita Y; Suryan, Aman Kumar AK; Suman, Prabhat P; Munshi, Anjana A; Singh, Sandeep S
Publication Date: 2021

Variant appearance in text: rs12516
PubMed Link: 34925466
Variant Present in the following documents:
  • Main text
  • fgene-12-793523.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs12516
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.

Pharmacogenomics And Personalized Medicine
Guo, Nan N; Qu, Peng P; Li, Hao H; Liu, Liuli L; Jin, Hao H; Liu, Renqi R; Zhang, Zhen Z; Zhang, Xuan X; Li, Yingchun Y; Lu, Xiaobo X; Zhao, Yuejiao Y
Publication Date: 2021

Variant appearance in text: rs12516
PubMed Link: 33986610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients.

Cancers
Aguado-Barrera, Miguel E ME; Martínez-Calvo, Laura L; Fernández-Tajes, Juan J; Calvo-Crespo, Patricia P; Taboada-Valladares, Begoña B; Lobato-Busto, Ramón R; Gómez-Caamaño, Antonio A; Vega, Ana A
Publication Date: 2021-03-22

Variant appearance in text: rs12516
PubMed Link: 33810047
Variant Present in the following documents:
  • Main text
  • cancers-13-01447.pdf
  • cancers-13-01447-s001.pdf
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Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Genes
Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2021-01-22

Variant appearance in text: rs12516
PubMed Link: 33499154
Variant Present in the following documents:
  • Main text
  • genes-12-00142.pdf
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Genetic Variants in the 3'UTR of BRCA1 and BRCA2 Genes and their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer.

Diagnostics (Basel, Switzerland)
Sánchez-Chaparro, María Marisela MM; Garza-Veloz, Idalia I; Zayas-Villanueva, Omar Alejandro OA; Martinez-Fierro, Margarita L ML; Delgado-Enciso, Iván I; Gomez-Govea, Mayra Alejandra MA; Martínez-de-Villarreal, Laura Elia LE; Reséndez-Pérez, Diana D; Rodríguez-Sánchez, Iram Pablo IP
Publication Date: 2020-05-13

Variant appearance in text: rs12516
PubMed Link: 32414209
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00298.pdf
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Effect of variation in miRNA-binding site (rs8176318) of the BRCA1 gene in breast cancer patients

Turkish Journal Of Medical Sciences
Ahmad, Mushtaq M; Jalil, Fazal F; Haq, Mutiul M; Shah, Aftab Ali
Publication Date: 2019-10-24

Variant appearance in text: rs12516
PubMed Link: 31651107
Variant Present in the following documents:
  • Main text
  • turkjmedsci-49-1433.pdf
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs12516
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Role of MicroRNAs in Recurrence and Metastasis of Head and Neck Squamous Cell Carcinoma.

Cancers
Yang, Chris X CX; Sedhom, Wafik W; Song, John J; Lu, Shi-Long SL
Publication Date: 2019-03-21

Variant appearance in text: rs12516
PubMed Link: 30901831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics.

Non-Coding Rna
Malhotra, Poonam P; Read, Graham H GH; Weidhaas, Joanne B JB
Publication Date: 2019-03-20

Variant appearance in text: rs12516
PubMed Link: 30897768
Variant Present in the following documents:
  • Main text
  • ncrna-05-00027.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12516
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



MicroRNA-Related Polymorphisms in Infectious Diseases-Tiny Changes With a Huge Impact on Viral Infections and Potential Clinical Applications.

Frontiers In Immunology
Ellwanger, Joel Henrique JH; Zambra, Francis Maria Báo FMB; Guimarães, Rafael Lima RL; Chies, José Artur Bogo JAB
Publication Date: 2018

Variant appearance in text: rs12516
PubMed Link: 29963045
Variant Present in the following documents:
  • Main text
  • fimmu-09-01316.pdf
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: rs12516
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Germline Mutation in the BRCA1 3’UTR Variant Predicts Susceptibility to Breast Cancer in a Saudi Arabian Population

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mir, Rashid R; Javid, Jamsheed J; Al Balawi, Ibrahim Abdullah IA; Alkharsah, Khaled R. KR; Hadi, Maha Abdel MA; Rahman, Mostafa Abdel MA; Hamoud, Ebtesam E; Al Alawi, Yousef Y; Al Zahrani, Attiya Bin Mohammad ABM; Abu-Duhier, F M FM
Publication Date: 2018-03-27

Variant appearance in text: rs12516
PubMed Link: 29582646
Variant Present in the following documents:
  • Main text
  • APJCP-19-859.pdf
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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs12516
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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Genetic variants in microRNA-binding sites of DNA repair genes as predictors of recurrence in patients with squamous cell carcinoma of the oropharynx.

International Journal Of Cancer
Zhu, Lijun L; Sturgis, Erich M EM; Zhang, Hua H; Lu, Zhongming Z; Tao, Ye Y; Wei, Qingyi Q; Li, Guojun G
Publication Date: 2017-10-01

Variant appearance in text: rs12516
PubMed Link: 28646528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between miRNA-binding site polymorphisms in double-strand break repair genes and risk of recurrence in patients with squamous cell carcinomas of the non-oropharynx.

Carcinogenesis
Zhu, Lijun L; Sturgis, Erich M EM; Lu, Zhongming Z; Zhang, Hua H; Wei, Peng P; Wei, Qingyi Q; Li, Guojun G
Publication Date: 2017-04-01

Variant appearance in text: rs12516
PubMed Link: 28334093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

International Journal Of Molecular And Cellular Medicine
Zorrieh Zahra, Atieh A; Kadkhoda, Sepideh S; Behjati, Farkhondeh F; Aghakhani Moghaddam, Fatemeh F; Badiei, Azadeh A; Sirati, Fereidoon F; Afshin Alavi, Hossein H; Atri, Morteza M; Omranipour, Ramesh R; Keyhani, Elahe E
Publication Date: 2016

Variant appearance in text: rs12516
PubMed Link: 27478808
Variant Present in the following documents:
  • Main text
  • ijmcm-5-114.pdf
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Identification and frequency of the rs12516 and rs8176318 BRCA1 gene polymorphisms among different populations.

Oncology Letters
Yang, Fang F; Chen, Fengxia F; Xu, Jin J; Guan, Xiaoxiang X
Publication Date: 2016-04

Variant appearance in text: rs12516
PubMed Link: 27073502
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer.

Oncotarget
Wang, Wenmiao W; Yuan, Peng P; Yu, Dianke D; Du, Feng F; Zhu, Anjie A; Li, Qing Q; Zhang, Pin P; Lin, Dongxin D; Xu, Binghe B
Publication Date: 2016-04-05

Variant appearance in text: rs12516
PubMed Link: 26959740
Variant Present in the following documents:
  • Main text
  • oncotarget-07-18984.pdf
View BVdb publication page



Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer.

Cancers
Zhao, Lina L; Pu, Xia X; Ye, Yuanqing Y; Lu, Charles C; Chang, Joe Y JY; Wu, Xifeng X
Publication Date: 2016-02-18

Variant appearance in text: rs12516
PubMed Link: 26901225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.

European Journal Of Human Genetics : Ejhg
Garcia, Amandine I AI; Buisson, Monique M; Damiola, Francesca F; Tessereau, Chloé C; Barjhoux, Laure L; Verny-Pierre, Carole C; Sornin, Valérie V; Dondon, Marie-Gabrielle MG; Eon-Marchais, Séverine S; , ; Caron, Olivier O; Gautier-Villars, Marion M; Coupier, Isabelle I; Buecher, Bruno B; Vennin, Philippe P; Belotti, Muriel M; Lortholary, Alain A; Gesta, Paul P; Dugast, Catherine C; Noguès, Catherine C; Fricker, Jean-Pierre JP; Faivre, Laurence L; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Sinilnikova, Olga M OM; Mazoyer, Sylvie S
Publication Date: 2016-08

Variant appearance in text: rs12516
PubMed Link: 26785832
Variant Present in the following documents:
  • Main text
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs12516
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One
Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P
Publication Date: 2014

Variant appearance in text: rs12516
PubMed Link: 24465869
Variant Present in the following documents:
  • Main text
  • pone.0086061.pdf
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The role of microRNA-binding site polymorphisms in DNA repair genes as risk factors for bladder cancer and breast cancer and their impact on radiotherapy outcomes.

Carcinogenesis
Teo, Mark T W MT; Landi, Debora D; Taylor, Claire F CF; Elliott, Faye F; Vaslin, Laurence L; Cox, David G DG; Hall, Janet J; Landi, Stefano S; Bishop, D Timothy DT; Kiltie, Anne E AE
Publication Date: 2012-03

Variant appearance in text: rs12516
PubMed Link: 22166496
Variant Present in the following documents:
  • Main text
  • bgr300.pdf
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Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk.

Cell Cycle (Georgetown, Tex.)
Pelletier, Cory C; Speed, William C WC; Paranjape, Trupti T; Keane, Katie K; Blitzblau, Rachel R; Hollestelle, Antoinette A; Safavi, Kyan K; van den Ouweland, Ans A; Zelterman, Daniel D; Slack, Frank J FJ; Kidd, Kenneth K KK; Weidhaas, Joanne B JB
Publication Date: 2011-01-01

Variant appearance in text: rs12516
PubMed Link: 21191178
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment
Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL
Publication Date: 2011-06

Variant appearance in text: rs12516
PubMed Link: 21161372
Variant Present in the following documents:
  • Main text
View BVdb publication page



MicroRNA binding site polymorphisms as biomarkers of cancer risk.

Expert Review Of Molecular Diagnostics
Pelletier, Cory C; Weidhaas, Joanne B JB
Publication Date: 2010-09

Variant appearance in text: rs12516
PubMed Link: 20843204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Publication Date: 2009-03-15

Variant appearance in text: rs12516
PubMed Link: 19276285
Variant Present in the following documents:
  • Main text
View BVdb publication page