BRCA1 c.*36C>G

Variant ID: 17-41197659-G-C

NM_007294.3(BRCA1):c.*36C>G

This variant was identified in 12 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: rs3092995
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.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: rs3092995
PubMed Link: 34925466
Variant Present in the following documents:
  • Main text
  • fgene-12-793523.pdf
View BVdb publication page



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: rs3092995
PubMed Link: 32414209
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00298.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: rs3092995
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



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: rs3092995
PubMed Link: 31651107
Variant Present in the following documents:
  • Main text
  • turkjmedsci-49-1433.pdf
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: rs3092995
PubMed Link: 31331294
Variant Present in the following documents:
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 1
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3
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: rs3092995
PubMed Link: 30897768
Variant Present in the following documents:
  • Main text
  • ncrna-05-00027.pdf
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: rs3092995
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: rs3092995
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutations in early onset luminal breast cancer.

Oncotarget
Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA
Publication Date: 2018-04-27

Variant appearance in text: rs3092995
PubMed Link: 29854292
Variant Present in the following documents:
  • oncotarget-09-22460-s002.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: rs3092995
PubMed Link: 25948282
Variant Present in the following documents:
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs3092995
PubMed Link: 21191178
Variant Present in the following documents:
  • Main text
View BVdb publication page