BRCA2 c.7235_7236insG ;(p.K2413*)

Variant ID: 13-32929225-C-CG

NM_000059.3(BRCA2):c.7235_7236insG;(p.K2413*)

This variant was identified in 16 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: BRCA2: 7235_7236insG; rs483353118
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: BRCA2: 7235_7236insG
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: BRCA2: 7235_7236insG; Lys2413Ter
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: BRCA2: 7235_7236insG
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: BRCA2: 7235_7236insG; Lys2413Terfs
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: BRCA2: 7235insG; Lys2413Terfs
PubMed Link: 32778078
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7250.pdf
View BVdb publication page



BRCA mutation screening and patterns among high-risk Lebanese subjects.

Hereditary Cancer In Clinical Practice
Farra, Chantal C; Dagher, Christelle C; Badra, Rebecca R; Hammoud, Miza Salim MS; Alameddine, Raafat R; Awwad, Johnny J; Seoud, Muhieddine M; Abbas, Jaber J; Boulos, Fouad F; El Saghir, Nagi N; Mukherji, Deborah D
Publication Date: 2019

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 30675319
Variant Present in the following documents:
  • Main text
  • 13053_2019_Article_105.pdf
View BVdb publication page



BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

Asian Pacific Journal Of Cancer Prevention : Apjcp
Belaiba, Fadoua F; Medimegh, Imene I; Bidet, Yannick Y; Boussetta, Sami S; Baroudi, Olfa O; Mezlini, Amel A; Bignon, Yves Jean YJ; Benammar El gaaied, Amel A
Publication Date: 2018-10-26

Variant appearance in text: BRCA2: 7235_7236insG
PubMed Link: 30362333
Variant Present in the following documents:
  • Main text
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: BRCA2: 7235insG
PubMed Link: 30263132
Variant Present in the following documents:
  • Main text
  • S2054420018000088a.pdf
View BVdb publication page



Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Bmc Medical Genetics
Elimam, Alsmawal A AA; Aabdein, Mohamed Elmogtba Mouaweia Mohamed MEMM; Eldeen, Mohamed El-Fatih Moly MEM; Altayb, Hisham N HN; Taha, Mohamed Adel MA; Nimir, Mohammed N MN; Dafaalla, Mohamed D MD; Alfaki, Musaab M MM; Abdelrahim, Mohamed A MA; Abdalla, Abdelmohaymin A AA; Mohammed, Musab I MI; Ellaithi, Mona M; Hamid, Muzamil Mahdi Abdel MMA; Hassan, Mohamed Ahmed Salih MAS
Publication Date: 2017-08-16

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 28814288
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_448.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: BRCA2: 7235insG
PubMed Link: 27446417
Variant Present in the following documents:
  • Main text
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: BRCA2: 7235insG
PubMed Link: 27129401
Variant Present in the following documents:
  • Main text
  • 13104_2016_Article_2057.pdf
View BVdb publication page



Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice
Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L
Publication Date: 2014

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 25780794
Variant Present in the following documents:
  • Main text
  • gcsp-2014-054.pdf
View BVdb publication page



A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International
Karami, Fatemeh F; Mehdipour, Parvin P
Publication Date: 2013

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
  • BMRI2013-928562.pdf
View BVdb publication page



Effect of the novel Moroccan BRCA1 and BRCA2 frameshift mutations.

Indian Journal Of Human Genetics
Tazzite, Amal A; Jouhadi, Hassan H; Hamzi, Khalil K; Benider, Abdellatif A; Nadifi, Sellama S
Publication Date: 2013-04

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 24019637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,297 individuals.

Indian Journal Of Human Genetics
Hamzi, Khalil K; Diakité, Bréhima B; Tazzite, Amal A; Nadifi, Sellama S
Publication Date: 2013-04

Variant appearance in text: BRCA2: 7235insG
PubMed Link: 24019636
Variant Present in the following documents:
  • IJHG-19-273b.pdf
View BVdb publication page