BRCA2 c.1275A>G ;(p.E425=)

Variant ID: 13-32906890-A-G

NM_000059.3(BRCA2):c.1275A>G;(p.E425=)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: BRCA2: 1275A>G; E425E; rs34355306
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.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: BRCA2: 1275A>G
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
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: BRCA2: 1275A>G; Glu425=; rs34355306
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Frontiers In Oncology
Kim, Junhyung J; Hwang, Kihwan K; Kwon, Hyun Jung HJ; Lee, Ji Eun JE; Lee, Kyu Sang KS; Choe, Gheeyoung G; Han, Jung Ho JH; Kim, Chae-Yong CY
Publication Date: 2022

Variant appearance in text: BRCA2: 1275A>G; E425E; rs34355306
PubMed Link: 35774130
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA2: 1275A>G; E425E; rs34355306
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.

Cancer Science
Nakamura, Ikuko Takeda IT; Ikegami, Masachika M; Hasegawa, Nobuhiko N; Hayashi, Takuo T; Ueno, Toshihide T; Kawazu, Masahito M; Yagishita, Shigehiro S; Goto, Yasushi Y; Shinno, Yuki Y; Kojima, Yuki Y; Takamochi, Kazuya K; Takahashi, Fumiyuki F; Takahashi, Kazuhisa K; Mano, Hiroyuki H; Kohsaka, Shinji S
Publication Date: 2021-05

Variant appearance in text: BRCA2: Glu425Glu
PubMed Link: 33484069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: BRCA2: E425E
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: BRCA2: 1275A>G; E425E
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
  • pone.0220929.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 1275A>G
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
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: 1275A>G; Glu425=
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
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: BRCA2: 1275A>G; Glu425Glu; rs34355306
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM3_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: BRCA2: Glu425Glu; rs34355306
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA2: 1275A>G; Glu425Glu; rs34355306
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_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: BRCA2: 1275A>G; Glu425=; rs34355306
PubMed Link: 29854292
Variant Present in the following documents:
  • oncotarget-09-22460-s002.xlsx, sheet 3
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: BRCA2: 1275A>G; Glu425=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Oncotarget
Shin, Saeam S; Kim, Yoonjung Y; Chul Oh, Seoung S; Yu, Nae N; Lee, Seung-Tae ST; Rak Choi, Jong J; Lee, Kyung-A KA
Publication Date: 2017-05-23

Variant appearance in text: BRCA2: 1275A>G; Glu425=
PubMed Link: 28422718
Variant Present in the following documents:
  • oncotarget-08-34858-s002.xlsx, sheet 1
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA2: E425=
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433-supple1.xlsx, sheet 1
  • crt-2016-433.pdf
View BVdb publication page



Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Human Mutation
Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Simons, Michiel M; Eijkelenboom, Astrid A; Sie, Aisha S AS; Ouchene, Hicham H; van Asseldonk, Monique M; Gomez-Garcia, Encarna B EB; Blok, Marinus J MJ; de Hullu, Joanne A JA; Nelen, Marcel R MR; Hoischen, Alexander A; Bulten, Johan J; Tops, Bastiaan B J BB; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ
Publication Date: 2017-02

Variant appearance in text: BRCA2: 1275A>G
PubMed Link: 27767231
Variant Present in the following documents:
  • HUMU-38-226-s002.xlsx, sheet 3
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: BRCA2: E425E; rs34355306
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Breast Cancer Research : Bcr
Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH
Publication Date: 2008

Variant appearance in text: BRCA2: E425E
PubMed Link: 18627636
Variant Present in the following documents:
  • Main text
  • bcr2118.pdf
View BVdb publication page



BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Plos One
Toh, Gaik Theng GT; Kang, Peter P; Lee, Sharlene S W SS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Selamat, Suhaida S; Mohd Taib, Nur Aishah NA; Yoon, Sook-Yee SY; Yip, Cheng Har CH; Teo, Soo-Hwang SH
Publication Date: 2008-04-23

Variant appearance in text: BRCA2: 1275A>G; E425E
PubMed Link: 18431501
Variant Present in the following documents:
  • Main text
View BVdb publication page