BRCA1 c.3158_3159insG ;(p.V1054Sfs*6)

Variant ID: 17-41244389-T-TC

NM_007294.3(BRCA1):c.3158_3159insG;(p.V1054Sfs*6)

This variant was identified in 7 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: 3158_3159insG; Val1054fs; rs80357769
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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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: 3158_3159insG; Val1054fs
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: 3158_3159insG; Val1054Serfs
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 5
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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: 3158_3159insG; Val1054Serfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics
Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2020-01

Variant appearance in text: BRCA1: 3158_3159insG; Val1054fs
PubMed Link: 31300551
Variant Present in the following documents:
  • jmedgenet-2019-106189supp005.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 3158_3159insG; Val1054Serfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

Plos One
Stavropoulou, Alexandra V AV; Fostira, Florentia F; Pertesi, Maroulio M; Tsitlaidou, Marianthi M; Voutsinas, Gerassimos E GE; Triantafyllidou, Olga O; Bamias, Aristotelis A; Dimopoulos, Meletios A MA; Timotheadou, Eleni E; Pectasides, Dimitrios D; Christodoulou, Christos C; Klouvas, George G; Papadimitriou, Christos C; Makatsoris, Thomas T; Pentheroudakis, George G; Aravantinos, Gerasimos G; Karydakis, Vassilis V; Yannoukakos, Drakoulis D; Fountzilas, George G; Konstantopoulou, Irene I
Publication Date: 2013

Variant appearance in text: BRCA1: 3158_3159insG; Val1054fs
PubMed Link: 23536787
Variant Present in the following documents:
  • Main text
  • pone.0058182.pdf
View BVdb publication page