BRCA1 c.4412del ;(p.G1471Afs*34)

Variant ID: 17-41228576-GC-G

NM_007294.3(BRCA1):c.4412del;(p.G1471Afs*34)

This variant was identified in 8 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: BRCA1: 4412del; Gly1471fs; rs1064793951
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 4412del; Gly1471fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 4412del; Gly1471Alafs*34
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 2
View BVdb publication page



BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.

Hereditary Cancer In Clinical Practice
El Ansari, Fatima Zahra FZ; Jouali, Farah F; Fekkak, Rim R; Bakkach, Joaira J; Ghailani Nourouti, Naima N; Barakat, Amina A; Bennani Mechita, Mohcine M; Fekkak, Jamal J
Publication Date: 2022-08-19

Variant appearance in text: BRCA1: 4412delG; Gly1471fs
PubMed Link: 35986351
Variant Present in the following documents:
  • Main text
  • 13053_2022_Article_236.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: BRCA1: 4412delG; Gly1471Alafs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2019-12-31

Variant appearance in text: BRCA1: 4412delG; Gly1471fs; rs1064793951
PubMed Link: 31892343
Variant Present in the following documents:
  • 13073_2019_691_MOESM1_ESM.pdf
View BVdb publication page



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: BRCA1: 4411delG; Gly1471fs
PubMed Link: 29337092
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Winter, C C; Nilsson, M P MP; Olsson, E E; George, A M AM; Chen, Y Y; Kvist, A A; Törngren, T T; Vallon-Christersson, J J; Hegardt, C C; Häkkinen, J J; Jönsson, G G; Grabau, D D; Malmberg, M M; Kristoffersson, U U; Rehn, M M; Gruvberger-Saal, S K SK; Larsson, C C; Borg, Å Å; Loman, N N; Saal, L H LH
Publication Date: 2016-08

Variant appearance in text: BRCA1: 4412delG; G1471fs
PubMed Link: 27194814
Variant Present in the following documents:
  • Main text
  • mdw209.pdf
View BVdb publication page