BRCA2 c.4035del ;(p.D1345Efs*29)

Variant ID: 13-32912527-AT-A

NM_000059.3(BRCA2):c.4035del;(p.D1345Efs*29)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 4035del
PubMed Link: 36613648
Variant Present in the following documents:
  • Main text
  • ijms-24-00207.pdf
View BVdb publication page



BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis.

British Journal Of Cancer
Nyberg, Tommy T; Tischkowitz, Marc M; Antoniou, Antonis C AC
Publication Date: 2022-04

Variant appearance in text: BRCA2: 4035del
PubMed Link: 34963702
Variant Present in the following documents:
  • 41416_2021_Article_1675.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: BRCA2: 4035del
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14

Variant appearance in text: BRCA2: 4035del
PubMed Link: 30441849
Variant Present in the following documents:
  • Main text
  • cancers-10-00442.pdf
View BVdb publication page