BRCA2 c.7480C>A ;(p.R2494=)

Variant ID: 13-32930609-C-A

NM_000059.3(BRCA2):c.7480C>A;(p.R2494=)

This variant was identified in 8 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: BRCA2: 7480C>A; rs80358972
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page



A New Insight for the Identification of Oncogenic Variants in Breast and Prostate Cancers in Diverse Human Populations, With a Focus on Latinos.

Frontiers In Pharmacology
Varela, Nelson M NM; Guevara-Ramírez, Patricia P; Acevedo, Cristian C; Zambrano, Tomás T; Armendáriz-Castillo, Isaac I; Guerrero, Santiago S; Quiñones, Luis A LA; López-Cortés, Andrés A
Publication Date: 2021

Variant appearance in text: rs80358972
PubMed Link: 33912047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: BRCA2: R2494=
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA2: R2494R
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
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: BRCA2: 7480C>A
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 3
  • IJC-145-962-s005.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

Plos Genetics
Mantere, Tuomo T; Winqvist, Robert R; Kauppila, Saila S; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tervasmäki, Anna A; Rapakko, Katrin K; Pylkäs, Katri K
Publication Date: 2016-01

Variant appearance in text: rs80358972
PubMed Link: 26820313
Variant Present in the following documents:
  • pgen.1005816.s004.xlsx, sheet 1
View BVdb publication page



The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Breast Cancer Research And Treatment
Dutil, Julie J; Golubeva, Volha A VA; Pacheco-Torres, Alba L AL; Diaz-Zabala, Hector J HJ; Matta, Jaime L JL; Monteiro, Alvaro N AN
Publication Date: 2015-12

Variant appearance in text: N/A
PubMed Link: 26564481
Variant Present in the following documents:
View BVdb publication page



Characterization of familial breast cancer in Saudi Arabia.

Bmc Genomics
Merdad, Adnan A; Gari, Mamdooh A MA; Hussein, Shireen S; Al-Khayat, Shadi S; Tashkandi, Hana H; Al-Maghrabi, Jaudah J; Al-Thubaiti, Fatma F; Hussein, Ibtessam R IR; Koumosani, Taha T; Shaer, Nehad N; Chaudhary, Adeel G AG; Abuzenadah, Adel M AM; Al-Qahtani, Mohammed H MH; Dallol, Ashraf A
Publication Date: 2015

Variant appearance in text: rs80358972
PubMed Link: 25923920
Variant Present in the following documents:
  • Main text
  • 1471-2164-16-S1-S3.pdf
View BVdb publication page