BRCA1 c.213-11T>G

Variant ID: 17-41256984-A-C

NM_007294.3(BRCA1):c.213-11T>G

This variant was identified in 9 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: 213-11T>G; rs80358061
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: 213-11T>G; rs80358061
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



Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Frontiers In Oncology
Paixão, Daniele D; Torrezan, Giovana Tardin GT; Santiago, Karina Miranda KM; Formiga, Maria Nirvana MN; Ahuno, Samuel Terkper ST; Dias-Neto, Emmanuel E; Tojal da Silva, Israel I; Foulkes, William D WD; Polak, Paz P; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: BRCA1: 213-11T>G; rs80358061
PubMed Link: 36119527
Variant Present in the following documents:
  • Main text
  • fonc-12-976959.pdf
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: BRCA1: 213-11T>G; rs80358061
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS5.xlsx, sheet 1
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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: rs80358061
PubMed Link: 35320892
Variant Present in the following documents:
View BVdb publication page



A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.

Cancers
Diaz-Zabala, Hector J HJ; Ortiz, Ana P AP; Garland, Lisa L; Jones, Kristine K; Perez, Cynthia M CM; Mora, Edna E; Arroyo, Nelly N; Oleksyk, Taras K TK; Echenique, Miguel M; Matta, Jaime L JL; Dean, Michael M; Dutil, Julie J
Publication Date: 2018-11-02

Variant appearance in text: BRCA1: 213-11T>G; rs80358061
PubMed Link: 30400234
Variant Present in the following documents:
  • Main text
  • cancers-10-00419.pdf
View BVdb publication page



Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.

Plos One
Schenk, Desiree D; Song, Gang G; Ke, Yue Y; Wang, Zhaohui Z
Publication Date: 2017

Variant appearance in text: BRCA1: 213-11T>G; rs80358061
PubMed Link: 28704513
Variant Present in the following documents:
  • pone.0181062.s004.xlsx, sheet 1
View BVdb publication page



Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Cancer Research And Treatment
Hwang, Sang Mee SM; Lee, Ki Chan KC; Lee, Min Seob MS; Park, Kyoung Un KU
Publication Date: 2018-01

Variant appearance in text: BRCA1: 213-11T>G; rs80358061
PubMed Link: 28392550
Variant Present in the following documents:
  • Main text
  • crt-2017-062.pdf
View BVdb publication page



Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

Molecular Systems Biology
Piccolo, Stephen R SR; Hoffman, Laura M LM; Conner, Thomas T; Shrestha, Gajendra G; Cohen, Adam L AL; Marks, Jeffrey R JR; Neumayer, Leigh A LA; Agarwal, Cori A CA; Beckerle, Mary C MC; Andrulis, Irene L IL; Spira, Avrum E AE; Moos, Philip J PJ; Buys, Saundra S SS; Johnson, William Evan WE; Bild, Andrea H AH
Publication Date: 2016-03-10

Variant appearance in text: rs80358061
PubMed Link: 26969729
Variant Present in the following documents:
  • Main text
  • MSB-12-860.pdf
View BVdb publication page