BRCA2 c.3700_3704del ;(p.L1234Kfs*7)

Variant ID: 13-32912192-TCTGCA-T

NM_000059.3(BRCA2):c.3700_3704del;(p.L1234Kfs*7)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines
Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS
Publication Date: 2023-05-08

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 37239058
Variant Present in the following documents:
  • biomedicines-11-01386.pdf
View BVdb publication page



Determination of BRCAness Phenotype in Breast Tumors for the Appointment of Neoadjuvant Chemotherapy Based on Platinum and Taxanes.

International Journal Of Molecular Sciences
Tsyganov, Matvey Mihajlovich MM; Ibragimova, Marina K MK; Garbukov, Evgeniy Y EY; Bragina, Olga D OD; Karchevskaya, Ariana A AA; Usynin, Evgeny A EA; Litvyakov, Nikolai V NV
Publication Date: 2022-12-22

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 36613648
Variant Present in the following documents:
  • Main text
  • ijms-24-00207.pdf
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: 3700_3704del
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s005.xlsx, sheet 2
View BVdb publication page



Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.pdf
View BVdb publication page



Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 32341426
Variant Present in the following documents:
  • 41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page



Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment
Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W
Publication Date: 2020-07

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 32019277
Variant Present in the following documents:
  • crt-2019-559.pdf
View BVdb publication page



Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Oncotarget
Ratajska, Magdalena M; Koczkowska, Magdalena M; Żuk, Monika M; Gorczyński, Adam A; Kuźniacka, Alina A; Stukan, Maciej M; Biernat, Wojciech W; Limon, Janusz J; Wasąg, Bartosz B
Publication Date: 2017-11-24

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 29254167
Variant Present in the following documents:
  • oncotarget-08-101325.pdf
View BVdb publication page



Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer
Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI
Publication Date: 2018-10

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 28918466
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Winter, C C; Nilsson, M P MP; Olsson, E E; George, A M AM; Chen, Y Y; Kvist, A A; Törngren, T T; Vallon-Christersson, J J; Hegardt, C C; Häkkinen, J J; Jönsson, G G; Grabau, D D; Malmberg, M M; Kristoffersson, U U; Rehn, M M; Gruvberger-Saal, S K SK; Larsson, C C; Borg, Å Å; Loman, N N; Saal, L H LH
Publication Date: 2016-08

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 27194814
Variant Present in the following documents:
  • mdw209.pdf
View BVdb publication page



A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA2: 3700_3704del
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
View BVdb publication page