BRCA1 c.3715del ;(p.S1239Lfs*25)

Variant ID: 17-41243832-GA-G

NM_007294.3(BRCA1):c.3715del;(p.S1239Lfs*25)

This variant was identified in 8 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 3715del; Ser1239fs; rs397509096
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 3715del; Ser1239Leufs
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: 3715delT; Ser1239fs
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.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: 3715delT; Ser1239Leufs; rs397509096
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 3715delT; Ser1239fs
PubMed Link: 25814778
Variant Present in the following documents:
  • Main text
  • DM2015-194293.pdf
View BVdb publication page


Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.

Springerplus
Oluwagbemiga, Lawal Abdulrazzaq LA; Oluwole, Atoyebi A; Kayode, Adesunkanmi Abdulrasheed AA
Publication Date: 2012-12

Variant appearance in text: BRCA1: 3715delT
PubMed Link: 23519070
Variant Present in the following documents:
  • Main text
  • 40064_2012_Article_130.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: 3715delT; Ser1239fs
PubMed Link: 23289006
Variant Present in the following documents:
  • Main text
View BVdb publication page


BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

International Journal Of Medical Sciences
Uhrhammer, Nancy N; Abdelouahab, Amina A; Lafarge, Laurence L; Feillel, Viviane V; Ben Dib, Ahmed A; Bignon, Yves-Jean YJ
Publication Date: 2008-07-08

Variant appearance in text: BRCA1: 3715delT; Ser1239fs
PubMed Link: 18645608
Variant Present in the following documents:
  • Main text
  • ijmsv05p0197.pdf
View BVdb publication page