BRCA2 c.7436_7494del ;(p.D2479Afs*40)

Variant ID: 13-32930565-GATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAA-G

NM_000059.3(BRCA2):c.7436_7494del;(p.D2479Afs*40)

This variant was identified in 12 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: 7436_7805del
PubMed Link: 36385461
Variant Present in the following documents:
  • Main text
  • IJC-152-1159.pdf
View BVdb publication page



The Progress of the Specific and Rapid Genetic Detection Methods for Ovarian Cancer Diagnosis and Treatment.

Technology In Cancer Research & Treatment
Dong, Kejun K; Zhang, Wei W; Cheng, Shuangshuang S; Shu, Wan W; Zhao, Rong R; Wang, Hongbo H
Publication Date: 2022

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 36062718
Variant Present in the following documents:
  • Main text
  • 10.1177_15330338221114497.pdf
View BVdb publication page



Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.

Breast Cancer (Tokyo, Japan)
Yoshida, Reiko R
Publication Date: 2021-11

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 32862296
Variant Present in the following documents:
  • Main text
  • 12282_2020_Article_1148.pdf
View BVdb publication page



Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.

Oncotarget
Yoshida, Reiko R; Watanabe, Chie C; Yokoyama, Shiro S; Inuzuka, Mayuko M; Yotsumoto, Junko J; Arai, Masami M; Nakamura, Seigo S; ,
Publication Date: 2019-05-14

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 31143373
Variant Present in the following documents:
  • Main text
  • oncotarget-10-3276.pdf
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 30702160
Variant Present in the following documents:
  • Main text
  • IJC-145-962.pdf
View BVdb publication page



Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

Frontiers In Oncology
Lattimore, Vanessa L VL; Pearson, John F JF; Currie, Margaret J MJ; Spurdle, Amanda B AB; , ; Robinson, Bridget A BA; Walker, Logan C LC
Publication Date: 2018

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 29774201
Variant Present in the following documents:
  • table_9.xlsx, sheet 1
  • table_7.xlsx, sheet 1
View BVdb publication page



Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

Oncotarget
Kwong, Ava A; Ho, John C W JCW; Shin, Vivian Y VY; Kurian, Allison W AW; Tai, Edmund E; Esserman, Laura J LJ; Weitzel, Jeffery N JN; Lin, Po-Han PH; Field, Michael M; Domchek, Susan M SM; Lo, Jessica J; Ngan, Hextan Y S HYS; Ma, Edmond S K ESK; Chan, Tsun L TL; Ford, James M JM
Publication Date: 2018-01-30

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 29487695
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7832.pdf
View BVdb publication page



The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Plos One
Sung, Pi-Lin PL; Wen, Kuo-Chang KC; Chen, Yi-Jen YJ; Chao, Ta-Chung TC; Tsai, Yi-Fang YF; Tseng, Ling-Ming LM; Qiu, Jian-Tai Timothy JT; Chao, Kuan-Chong KC; Wu, Hua-Hsi HH; Chuang, Chi-Mu CM; Wang, Peng-Hui PH; Huang, Chi-Ying F CF
Publication Date: 2017

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 28961279
Variant Present in the following documents:
  • Main text
  • pone.0185615.pdf
View BVdb publication page



Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer
Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ
Publication Date: 2016-02-06

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 26852015
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2107.pdf
View BVdb publication page



Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2.

Journal Of Assisted Reproduction And Genetics
Wang, Qingxue Q; Chow, Judy F C JF; Yeung, William S B WS; Lau, Estella Y L EY; Lee, Vivian C Y VC; Ng, Ernest H Y EH; Ho, Pak-Chung PC
Publication Date: 2014-12

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 25304112
Variant Present in the following documents:
  • Main text
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: 7436_7805del
PubMed Link: 24312913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One
Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES
Publication Date: 2012

Variant appearance in text: BRCA2: 7436_7805del
PubMed Link: 22970155
Variant Present in the following documents:
View BVdb publication page