BRCA1 c.213-12A>G

Variant ID: 17-41256985-T-C

NM_007294.3(BRCA1):c.213-12A>G

This variant was identified in 6 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: 213-12A>G; rs80358163
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.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: 213-12A>G; rs80358163
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
View BVdb publication page



Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.

Bmc Cancer
Li, Yan Y; Chen, Lili L; Lv, Jinxing J; Chen, Xiaobin X; Zeng, Bangwei B; Chen, Minyan M; Guo, Wenhui W; Lin, Yuxiang Y; Yu, Liuwen L; Hou, Jialin J; Li, Jing J; Zhou, Peng P; Zhang, Wenzhe W; Li, Shengmei S; Jin, Xuan X; Cai, Weifeng W; Zhang, Kun K; Huang, Yeyuan Y; Wang, Chuan C; Fu, Fangmeng F
Publication Date: 2022-11-02

Variant appearance in text: BRCA1: 213-12A>G; rs80358163
PubMed Link: 36324133
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10160.pdf
  • 12885_2022_10160_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.

Frontiers In Genetics
Doraczynska-Kowalik, Anna A; Michalowska, Dagmara D; Matkowski, Rafal R; Czykalko, Ewelina E; Blomka, Dorota D; Semeniuk, Mariola M; Abrahamowska, Mariola M; Janus-Szymanska, Gabriela G; Mlynarczykowska, Paulina P; Szynglarewicz, Bartlomiej B; Pawlak, Ireneusz I; Maciejczyk, Adam A; Laczmanska, Izabela I
Publication Date: 2022

Variant appearance in text: BRCA1: 213-12A>G; rs80358163
PubMed Link: 36171877
Variant Present in the following documents:
  • Main text
  • fgene-13-941375.pdf
View BVdb publication page



Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.

Journal Of Gynecologic Oncology
Lee, Jung-Yun JY; Kim, Byoung-Gie BG; Kim, Jae-Weon JW; Lee, Jung Bok JB; Park, Eunhyang E; Joung, Je-Gun JG; Kim, Sunghoon S; Choi, Chel Hun CH; Kim, Hee Seung HS; ,
Publication Date: 2022-07

Variant appearance in text: rs80358163
PubMed Link: 35320892
Variant Present in the following documents:
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: 213-12A>G; rs80358163
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s008.xlsx, sheet 1
  • IJC-145-962-s004.xlsx, sheet 1
View BVdb publication page