BRCA2 c.1705_1706del ;(p.Q569Efs*20)

Variant ID: 13-32907315-CCA-C

NM_000059.3(BRCA2):c.1705_1706del;(p.Q569Efs*20)

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: 1705_1706del; Gln569fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA2: 1705_1706del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
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: 1705_1706del; Gln569Glufs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

The Lancet. Oncology
Copson, Ellen R ER; Maishman, Tom C TC; Tapper, Will J WJ; Cutress, Ramsey I RI; Greville-Heygate, Stephanie S; Altman, Douglas G DG; Eccles, Bryony B; Gerty, Sue S; Durcan, Lorraine T LT; Jones, Louise L; Evans, D Gareth DG; Thompson, Alastair M AM; Pharoah, Paul P; Easton, Douglas F DF; Dunning, Alison M AM; Hanby, Andrew A; Lakhani, Sunil S; Eeles, Ros R; Gilbert, Fiona J FJ; Hamed, Hisham H; Hodgson, Shirley S; Simmonds, Peter P; Stanton, Louise L; Eccles, Diana M DM
Publication Date: 2018-02

Variant appearance in text: BRCA2: 1705_1706del; Gln569Glufs*20
PubMed Link: 29337092
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Cancer
Pal, Tuya T; Bonner, Devon D; Cragun, Deborah D; Monteiro, Alvaro N A AN; Phelan, Catherine C; Servais, Lily L; Kim, Jongphil J; Narod, Steven A SA; Akbari, Mohammad R MR; Vadaparampil, Susan T ST
Publication Date: 2015-12-01

Variant appearance in text: BRCA2: 1705_1706delCA
PubMed Link: 26287763
Variant Present in the following documents:
  • Main text
View BVdb publication page