BRCA2 c.1593del ;(p.E532Kfs*26)

Variant ID: 13-32907202-TA-T

NM_000059.3(BRCA2):c.1593del;(p.E532Kfs*26)

This variant was identified in 5 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: 1593del; Glu532fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

International Journal Of Environmental Research And Public Health
Vidra, Radu R; Ciuleanu, Tudor Eliade TE; Nemeș, Adina A; Pascu, Oana O; Heroiu, Ana Maria AM; Antone, Nicoleta N; Vidrean, Andreea Iulia AI; Oprean, Cristina Marinela CM; Pop, Laura Ancuta LA; Berindan-Neagoe, Ioana I; Eniu, Rares R; Eniu, Alexandru A
Publication Date: 2022-04-04

Variant appearance in text: BRCA2: 1593delA
PubMed Link: 35409996
Variant Present in the following documents:
  • Main text
  • ijerph-19-04314.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 1593delA; Glu532Lysfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Genetics of breast cancer in African populations: a literature review.

Global Health, Epidemiology And Genomics
Abbad, A A; Baba, H H; Dehbi, H H; Elmessaoudi-Idrissi, M M; Elyazghi, Z Z; Abidi, O O; Radouani, F F
Publication Date: 2018

Variant appearance in text: BRCA2: 1590delA
PubMed Link: 30263132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Biomed Research International
Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M
Publication Date: 2014

Variant appearance in text: BRCA2: 1593delA
PubMed Link: 25136594
Variant Present in the following documents:
  • 542541.f1.pdf
View BVdb publication page