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BRCA2 c.3770_3771del ;(p.P1257Hfs*7)
Variant ID: 13-32912262-CCA-C
NM_000059.3(
BRCA2
):c.3770_3771del;(p.P1257Hfs*7)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: BRCA2: 3770_3771del
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s005.xlsx, sheet 2
IJC-152-1159-s001.xlsx, sheet 1
IJC-152-1159-s005.xlsx, sheet 3
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: BRCA2: 3770_3771del
PubMed Link:
35216584
Variant Present in the following documents:
Main text
12885_2022_Article_9181.pdf
View BVdb publication page
Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives.
Breast (Edinburgh, Scotland)
Ficarazzi, Filomena F; Vecchi, Manuela M; Ferrari, Maurizio M; Pierotti, Marco A MA
Publication Date: 2021-08
Variant appearance in text: BRCA2: 3770_3771del
PubMed Link:
34022715
Variant Present in the following documents:
main.pdf
View BVdb publication page
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27
Variant appearance in text: BRCA2: 3770_3771del
PubMed Link:
32341426
Variant Present in the following documents:
41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
Molecular Genetics & Genomic Medicine
Hirotsu, Yosuke Y; Nakagomi, Hiroshi H; Sakamoto, Ikuko I; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2015-03
Variant appearance in text: BRCA2: 3770_3771del
PubMed Link:
25802882
Variant Present in the following documents:
mgg30003-0121.pdf
View BVdb publication page