BRCA1 c.5406+8T>C

Variant ID: 17-41201130-A-G

NM_007294.3(BRCA1):c.5406+8T>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 36865205
Variant Present in the following documents:
  • media-8.xlsx, sheet 1
  • media-10.xlsx, sheet 1
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



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: BRCA1: 5406+8T>C
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports
Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE
Publication Date: 2022-11-03

Variant appearance in text: BRCA1: 5406+8T>C; rs55946644
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.

Journal Of Personalized Medicine
Huang, Ching-Shui CS; Liu, Chih-Yi CY; Lu, Tzu-Pin TP; Huang, Chi-Jung CJ; Chiu, Jen-Hwey JH; Tseng, Ling-Ming LM; Huang, Chi-Cheng CC
Publication Date: 2021-06-28

Variant appearance in text: rs55946644
PubMed Link: 34203389
Variant Present in the following documents:
  • Main text
  • jpm-11-00613.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: rs55946644
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.

The Journal Of Clinical Investigation
Ho, Allen S AS; Ochoa, Angelica A; Jayakumaran, Gowtham G; Zehir, Ahmet A; Valero Mayor, Cristina C; Tepe, Justin J; Makarov, Vladimir V; Dalin, Martin G MG; He, Jie J; Bailey, Mark M; Montesion, Meagan M; Ross, Jeffrey S JS; Miller, Vincent A VA; Chan, Lindsay L; Ganly, Ian I; Dogan, Snjezana S; Katabi, Nora N; Tsipouras, Petros P; Ha, Patrick P; Agrawal, Nishant N; Solit, David B DB; Futreal, P Andrew PA; El Naggar, Adel K AK; Reis-Filho, Jorge S JS; Weigelt, Britta B; Ho, Alan L AL; Schultz, Nikolaus N; Chan, Timothy A TA; Morris, Luc Gt LG
Publication Date: 2019-10-01

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 31483290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Bmc Cancer
Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE
Publication Date: 2019-07-22

Variant appearance in text: BRCA1: 5406+8T>C; rs55946644
PubMed Link: 31331294
Variant Present in the following documents:
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s006.xlsx, sheet 2
View BVdb publication page



Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases
Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M
Publication Date: 2019-09

Variant appearance in text: rs55946644
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: rs55946644
PubMed Link: 25948282
Variant Present in the following documents:
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

European Journal Of Human Genetics : Ejhg
Steffensen, Ane Y AY; Dandanell, Mette M; Jønson, Lars L; Ejlertsen, Bent B; Gerdes, Anne-Marie AM; Nielsen, Finn C FC; Hansen, Thomas vO Tv
Publication Date: 2014-12

Variant appearance in text: BRCA1: 5406+8T>C
PubMed Link: 24667779
Variant Present in the following documents:
  • Main text
View BVdb publication page