BRCA2 c.351_352del ;(p.R118Hfs*5)

Variant ID: 13-32899247-TTC-T

NM_000059.3(BRCA2):c.351_352del;(p.R118Hfs*5)

This variant was identified in 3 publications

View GRCh38 version.




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: 351_352del; Arg118Hisfs*5
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA2: 351_352del
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA2: 351_352del
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

Bmc Medical Genetics
Akter, Hosneara H; Sultana, Nasima N; Martuza, Nazrana N; Siddiqua, Aaysha A; Dity, Nushrat Jahan NJ; Rahaman, Md Atikur MA; Samara, Bisan B; Sayeed, Ahmed A; Basiruzzaman, Mohammed M; Rahman, Mohammad Mizanur MM; Rashidul Hoq, Md M; Amin, Md Robed MR; Baqui, Md Abdul MA; Woodbury-Smith, Marc M; Uddin, K M Furkan KMF; Islam, Syed S SS; Awwal, Rayhana R; Berdiev, Bakhrom K BK; Uddin, Mohammed M
Publication Date: 2019-09-02

Variant appearance in text: BRCA2: 351_352delTC; Arg118Hisfs
PubMed Link: 31477031
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_881.pdf
View BVdb publication page