BRCA1 c.3599_3600del ;(p.Q1200Rfs*18)

Variant ID: 17-41243948-CCT-C

NM_007294.3(BRCA1):c.3599_3600del;(p.Q1200Rfs*18)

This variant was identified in 8 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: BRCA1: 3599_3600del; Gln1200fs; rs398122674
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: BRCA1: 3599_3600del; Gln1200Argfs*18; rs398122674
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s011.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 6
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 1
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: BRCA1: 3599_3600delAG; Gln1200Argfs; rs398122674
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page


BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Fanale, Daniele D; Bono, Marco M; Calò, Valentina V; Fiorino, Alessia A; Brando, Chiara C; Corsini, Lidia Rita LR; Cutaia, Sofia S; Cancelliere, Daniela D; Pivetti, Alessia A; Filorizzo, Clarissa C; La Mantia, Maria M; Barraco, Nadia N; Cusenza, Stefania S; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020

Variant appearance in text: BRCA1: 3599_3600del; Gln1200Argfs
PubMed Link: 33403015
Variant Present in the following documents:
  • Main text
  • 10.1177_1758835920975326.pdf
View BVdb publication page


Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Genes
Foglietta, Jennifer J; Ludovini, Vienna V; Bianconi, Fortunato F; Pistola, Lorenza L; Reda, Maria Sole MS; Al-Refaie, Antonella A; Tofanetti, Francesca Romana FR; Mosconi, Annamaria A; Minenza, Elisa E; Anastasi, Paola P; Molica, Carmen C; Stracci, Fabrizio F; Roila, Fausto F
Publication Date: 2020-08-12

Variant appearance in text: BRCA1: 3599_3600delAG; Gln1200Argfs
PubMed Link: 32806537
Variant Present in the following documents:
  • Main text
  • genes-11-00925.pdf
View BVdb publication page


A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: BRCA1: 3599_3600delAG; Gln1200Argfs*18
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page


Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.

Molecular Genetics & Genomic Medicine
Deng, Hongyu H; Chen, Ming M; Guo, Xinwu X; Heng, Jianfu J; Xu, Xunxun X; Peng, Limin L; Jiang, Hui H; Li, Guoli G; Day, Julia X JX; Li, Jinliang J; Shan, Dongyong D; Li, Yinghua Y; Zhou, Yanjie Y; Liu, Bin B; Dai, Lizhong L; Wang, Xiaochun X; Wang, Jun J
Publication Date: 2019-06

Variant appearance in text: BRCA1: 3599_3600delAG; Q1200fs; rs398122674
PubMed Link: 30972954
Variant Present in the following documents:
  • Main text
  • MGG3-7-e672-s001.pdf
  • MGG3-7-e672.pdf
View BVdb publication page


Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 3599_3600delAG; Gln1200Argfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page