BRCA1 c.4933del ;(p.R1645Gfs*13)

Variant ID: 17-41222997-CT-C

NM_007294.3(BRCA1):c.4933del;(p.R1645Gfs*13)

This variant was identified in 5 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: BRCA1: 4933del; Arg1645Glyfs*13
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Cancer Research And Treatment
Bang, Yoon Ju YJ; Kwon, Won Kyung WK; Nam, Seok Jin SJ; Kim, Seok Won SW; Chae, Byung-Joo BJ; Lee, Se Kyung SK; Ryu, Jai Min JM; Kim, Jong-Won JW; Yu, Jonghan J; Lee, Jeong Eon JE
Publication Date: 2022-07

Variant appearance in text: BRCA1: 4933del; Arg1645Glyfs*13
PubMed Link: 34645131
Variant Present in the following documents:
  • crt-2021-791_S2_Table.pdf
View BVdb publication page



Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

Journal Of Gynecologic Oncology
Jung, Yuyeon Y; Hur, Sooyoung S; Liu, JingJing J; Lee, Sanha S; Kang, Byung Soo BS; Kim, Myungshin M; Choi, Youn Jin YJ
Publication Date: 2021-03

Variant appearance in text: BRCA1: 4933delA
PubMed Link: 33470065
Variant Present in the following documents:
  • jgo-32-e23-s001.xls, sheet 1
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA1: 4933delA
PubMed Link: 33078592
Variant Present in the following documents:
  • jgo-31-e83-s007.xls, sheet 1
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
View BVdb publication page



Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.

Cancers
Hur, Joon Young JY; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Lee, Jiyun J; Kwon, Minsuk M; Park, Yeon Hee YH
Publication Date: 2020-05-21

Variant appearance in text: BRCA1: 4933delA; Arg1645Glyfs
PubMed Link: 32455662
Variant Present in the following documents:
  • Main text
  • cancers-12-01306.pdf
View BVdb publication page