BRCA1 c.637_638delinsTA ;(p.R213*)

Variant ID: 17-41247895-CT-TA

NM_007294.3(BRCA1):c.637_638delinsTA;(p.R213*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


BRCA1-methylated triple negative breast cancers previously exposed to neoadjuvant chemotherapy form RAD51 foci and respond poorly to olaparib.

Frontiers In Oncology
Velazquez, Carolina C; Orhan, Esin E; Tabet, Imene I; Fenou, Lise L; Orsetti, Béatrice B; Adélaïde, José J; Guille, Arnaud A; Thézénas, Simon S; Crapez, Evelyne E; Colombo, Pierre-Emmanuel PE; Chaffanet, Max M; Birnbaum, Daniel D; Sardet, Claude C; Jacot, William W; Theillet, Charles C
Publication Date: 2023

Variant appearance in text: BRCA1: R213X
PubMed Link: 37007122
Variant Present in the following documents:
  • DataSheet_2.pdf
View BVdb publication page



Identification of a Molecularly-Defined Subset of Breast and Ovarian Cancer Models that Respond to WEE1 or ATR Inhibition, Overcoming PARP Inhibitor Resistance.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Serra, Violeta V; Wang, Anderson T AT; Castroviejo-Bermejo, Marta M; Polanska, Urszula M UM; Palafox, Marta M; Herencia-Ropero, Andrea A; Jones, Gemma N GN; Lai, Zhongwu Z; Armenia, Joshua J; Michopoulos, Filippos F; Llop-Guevara, Alba A; Brough, Rachel R; Gulati, Aditi A; Pettitt, Stephen J SJ; Bulusu, Krishna C KC; Nikkilä, Jenni J; Wilson, Zena Z; Hughes, Adina A; Wijnhoven, Paul W G PWG; Ahmed, Ambar A; Bruna, Alejandra A; Gris-Oliver, Albert A; Guzman, Marta M; Rodríguez, Olga O; Grueso, Judit J; Arribas, Joaquin J; Cortés, Javier J; Saura, Cristina C; Lau, Alan A; Critchlow, Susan S; Dougherty, Brian B; Caldas, Carlos C; Mills, Gordon B GB; Barrett, J Carl JC; Forment, Josep V JV; Cadogan, Elaine E; Lord, Christopher J CJ; Cruz, Cristina C; Balmaña, Judith J; O'Connor, Mark J MJ
Publication Date: 2022-10-14

Variant appearance in text: BRCA1: R213*
PubMed Link: 35921524
Variant Present in the following documents:
  • ccr-22-0568_supplementary_tables_s1-5_suppts1-5.xlsx, sheet 5
View BVdb publication page



Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por
Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A
Publication Date: 2021

Variant appearance in text: BRCA1: Arg213*
PubMed Link: 35002543
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin.

Hereditary Cancer In Clinical Practice
Gorodnova, Tatiana V TV; Sokolenko, Anna P AP; Kotiv, Khristina B KB; Sokolova, Tatiana N TN; Ivantsov, Alexandr O AO; Guseynov, Konstantin D KD; Nekrasova, Ekaterina A EA; Smirnova, Olga A OA; Berlev, Igor V IV; Imyanitov, Evgeny N EN
Publication Date: 2021-02-03

Variant appearance in text: BRCA1: R213X
PubMed Link: 33536037
Variant Present in the following documents:
  • 13053_2021_Article_173.pdf
View BVdb publication page



Gain of function mutant p53 proteins cooperate with E2F4 to transcriptionally downregulate RAD17 and BRCA1 gene expression.

Oncotarget
Valenti, Fabio F; Ganci, Federica F; Fontemaggi, Giulia G; Sacconi, Andrea A; Strano, Sabrina S; Blandino, Giovanni G; Di Agostino, Silvia S
Publication Date: 2015-03-20

Variant appearance in text: BRCA1: R213X
PubMed Link: 25650659
Variant Present in the following documents:
  • oncotarget-06-5547-s001.pdf
View BVdb publication page



BRCA1-mutated and basal-like breast cancers have similar aCGH profiles and a high incidence of protein truncating TP53 mutations.

Bmc Cancer
Holstege, Henne H; Horlings, Hugo M HM; Velds, Arno A; Langerød, Anita A; Børresen-Dale, Anne-Lise AL; van de Vijver, Marc J MJ; Nederlof, Petra M PM; Jonkers, Jos J
Publication Date: 2010-11-30

Variant appearance in text: BRCA1: R213X
PubMed Link: 21118481
Variant Present in the following documents:
  • Main text
  • 1471-2407-10-654.pdf
View BVdb publication page