BRCA1 c.3279del ;(p.Y1094Ifs*15)

Variant ID: 17-41244269-AG-A

NM_007294.3(BRCA1):c.3279del;(p.Y1094Ifs*15)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling.

Bmc Cancer
Melki, Rahma R; Melloul, Marouane M; Aissaoui, Souria S; El Harroudi, Tijani T; Boukhatem, Noureddine N
Publication Date: 2023-04-13

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 37055759
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10822.pdf
View BVdb publication page



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: 3279del; Tyr1094fs; rs397509050
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: 3279del; Tyr1094fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
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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: 3279del; Tyr1094Ilefs
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 5
View BVdb publication page



Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 3279delC; Tyr1094Ilefs
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.pdf
View BVdb publication page



Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Journal Of Genomics
Laraqui, Abdelilah A; Cavaillé, Mathias M; Uhrhammer, Nancy N; ElBiad, Oubaida O; Bidet, Yannick Y; El Rhaffouli, Hicham H; El Anaz, Hicham H; Rahali, Driss Moussaoui DM; Kouach, Jaouad J; Guelzim, Khaled K; Badaoui, Bouabid B; AlBouzidi, Abderrahman A; Oukabli, Mohammed M; Tanz, Rachid R; Sbitti, Yasser Y; Ichou, Mohammed M; Ennibi, Khaled K; Sekhsokh, Yassine Y; Bignon, Yves-Jean YJ
Publication Date: 2021

Variant appearance in text: BRCA1: 3279delC; Tyr1094IlefsX15; rs397509050
PubMed Link: 34646395
Variant Present in the following documents:
  • Main text
  • jgenv09p0043.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: 3279delC; Tyr1094Ilefs; rs397509050
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

Bmc Cancer
El Ansari, Fatima Zahra FZ; Jouali, Farah F; Marchoudi, Nabila N; Bennani, Mohcine Mechita MM; Ghailani, Naima Nourouti NN; Barakat, Amina A; Fekkak, Jamal J
Publication Date: 2020-08-10

Variant appearance in text: BRCA1: 3279delC; Tyr1094fs
PubMed Link: 32778078
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7250.pdf
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: BRCA1: 3279delC
PubMed Link: 30263132
Variant Present in the following documents:
  • Main text
  • S2054420018000088a.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: 3279delC; Tyr1094Ilefs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Clinical and pathological features of BRCA1/2 tumors in a sample of high-risk Moroccan breast cancer patients.

Bmc Research Notes
Jouhadi, Hassan H; Tazzite, Amal A; Azeddoug, Houssine H; Naim, Asmâa A; Nadifi, Sellama S; Benider, Abdellatif A
Publication Date: 2016-04-29

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 27129401
Variant Present in the following documents:
  • Main text
  • 13104_2016_Article_2057.pdf
View BVdb publication page



Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.

Bmc Cancer
El Khachibi, Meryam M; Diakite, Brehima B; Hamzi, Khalil K; Badou, Abdallah A; Senhaji, Mohamed Amine MA; Bakhchane, Amina A; Jouhadi, Hassan H; Barakat, Abdelhamid A; Benider, Abdellatif A; Nadifi, Sellama S
Publication Date: 2015-02-25

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 25885115
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Disease Markers
Laraqui, Abdelilah A; Uhrhammer, Nancy N; Rhaffouli, Hicham E L HE; Sekhsokh, Yassine Y; Lahlou-Amine, Idriss I; Bajjou, Tahar T; Hilali, Farida F; El Baghdadi, Jamila J; Al Bouzidi, Abderrahmane A; Bakri, Youssef Y; Amzazi, Said S; Bignon, Yves-Jean YJ
Publication Date: 2015

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 25814778
Variant Present in the following documents:
  • Main text
  • DM2015-194293.pdf
View BVdb publication page



Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

International Journal Of Medical Sciences
Laraqui, Abdelilah A; Uhrhammer, Nancy N; Lahlou-Amine, Idriss I; El Rhaffouli, Hicham H; El Baghdadi, Jamila J; Dehayni, Mohamed M; Moussaoui, Rahali Driss RD; Ichou, Mohamed M; Sbitti, Yassir Y; Al Bouzidi, Abderrahman A; Amzazi, Said S; Bignon, Yves-Jean YJ
Publication Date: 2013

Variant appearance in text: BRCA1: 3279delC
PubMed Link: 23289006
Variant Present in the following documents:
  • Main text
  • ijmsv10p0060.pdf
View BVdb publication page