BRCA2 c.517-4C>G

Variant ID: 13-32900632-C-G

NM_000059.3(BRCA2):c.517-4C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA2: 517-4C>G; rs81002804
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.

Frontiers In Oncology
Oosthuizen, Jaco J; Kotze, Maritha J MJ; Van Der Merwe, Nicole N; Myburgh, Ettienne J EJ; Bester, Phillip P; van der Merwe, Nerina C NC
Publication Date: 2020

Variant appearance in text: BRCA2: 517-4C>G; rs81002804
PubMed Link: 33643918
Variant Present in the following documents:
  • Main text
  • fonc-10-619469.pdf
View BVdb publication page



Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 517-4C>G; rs81002804
PubMed Link: 32438681
Variant Present in the following documents:
  • Main text
  • cancers-12-01286.pdf
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: 517-4C>G; rs81002804
PubMed Link: 29854292
Variant Present in the following documents:
  • oncotarget-09-22460-s002.xlsx, sheet 3
View BVdb publication page