BRCA1 c.3453del ;(p.D1151Efs*4)

Variant ID: 17-41244095-CA-C

NM_007294.3(BRCA1):c.3453del;(p.D1151Efs*4)

This variant was identified in 4 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: 3453delT
PubMed Link: 37055759
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10822.pdf
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: 3453delT; Asp1151Glufs
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.pdf
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: 3453delT
PubMed Link: 32778078
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7250.pdf
View BVdb publication page



First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.

Oncology Letters
Jouali, Farah F; Laarabi, Fatima-Zahra FZ; Marchoudi, Nabila N; Ratbi, Ilham I; Elalaoui, Siham Chafai SC; Rhaissi, Houria H; Fekkak, Jamal J; Sefiani, Abdelaziz A
Publication Date: 2016-08

Variant appearance in text: BRCA1: 3453delT; Asp1151Glufs
PubMed Link: 27446417
Variant Present in the following documents:
  • Main text
View BVdb publication page