BRCA1 c.79_80delinsGC ;(p.C27A)

Variant ID: 17-41276034-CA-GC

NM_007294.3(BRCA1):c.79_80delinsGC;(p.C27A)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRCA1: C27A
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRCA1: C27A
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Cancers
Caleca, Laura L; Colombo, Mara M; van Overeem Hansen, Thomas T; Lázaro, Conxi C; Manoukian, Siranoush S; Parsons, Michael T MT; Spurdle, Amanda B AB; Radice, Paolo P
Publication Date: 2019-01-28

Variant appearance in text: BRCA1: 79_80delTGinsGC; Cys27Ala
PubMed Link: 30696104
Variant Present in the following documents:
  • Main text
  • cancers-11-00151.pdf
View BVdb publication page



Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.

Cancer Science
Watanabe, Gou G; Chiba, Natsuko N; Nomizu, Tadashi T; Furuta, Akihiko A; Sato, Kaolu K; Miyashita, Minoru M; Tada, Hiroshi H; Suzuki, Akihiko A; Ohuchi, Noriaki N; Ishida, Takanori T
Publication Date: 2018-06

Variant appearance in text: BRCA1: C27A
PubMed Link: 29601120
Variant Present in the following documents:
  • CAS-109-2027-s002.xlsx, sheet 1
View BVdb publication page



Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

Human Mutation
Towler, William I WI; Zhang, Jie J; Ransburgh, Derek J R DJ; Toland, Amanda E AE; Ishioka, Chikashi C; Chiba, Natsuko N; Parvin, Jeffrey D JD
Publication Date: 2013-03

Variant appearance in text: BRCA1: C27A
PubMed Link: 23161852
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

Oncogene
Kais, Z Z; Chiba, N N; Ishioka, C C; Parvin, J D JD
Publication Date: 2012-02-09

Variant appearance in text: BRCA1: C27A
PubMed Link: 21725363
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

Cancer Research
Ransburgh, Derek J R DJ; Chiba, Natsuko N; Ishioka, Chikashi C; Toland, Amanda Ewart AE; Parvin, Jeffrey D JD
Publication Date: 2010-02-01

Variant appearance in text: BRCA1: C27A
PubMed Link: 20103620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Brzovic, Peter S PS; Keeffe, Jennifer R JR; Nishikawa, Hiroyuki H; Miyamoto, Keiko K; Fox, David D; Fukuda, Mamoru M; Ohta, Tomohiko T; Klevit, Rachel R
Publication Date: 2003-05-13

Variant appearance in text: BRCA1: C27A
PubMed Link: 12732733
Variant Present in the following documents:
  • Main text
View BVdb publication page