BRCA1 c.3813dup ;(p.N1272*)

Variant ID: 17-41243734-T-TA

NM_007294.3(BRCA1):c.3813dup;(p.N1272*)

This variant was identified in 9 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: BRCA1: 3813dup; Asn1272Ter; rs397509108
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 3813dup
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.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: 3813dup; Asn1272*
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
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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: 3813dupT; Asn1272Terfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 3813dupT
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: 3813dupT
PubMed Link: 33078592
Variant Present in the following documents:
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
  • jgo-31-e83-s007.xls, sheet 1
View BVdb publication page



Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Cancer Research And Treatment
Choi, Min Chul MC; Hwang, Sohyun S; Kim, Sewha S; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Tae-Heon TH; Kang, Haeyoun H; An, Hee Jung HJ
Publication Date: 2020-04

Variant appearance in text: BRCA1: 3813dupT; Asn1272*
PubMed Link: 32019284
Variant Present in the following documents:
  • Main text
  • crt-2019-207-suppl1.pdf
  • crt-2019-207.pdf
  • crt-2019-207-suppl3.pdf
View BVdb publication page



BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Hereditary Cancer In Clinical Practice
Heramb, Cecilie C; Wangensteen, Teresia T; Grindedal, Eli Marie EM; Ariansen, Sarah Louise SL; Lothe, Sheba S; Heimdal, Ketil Riddervold KR; Mæhle, Lovise L
Publication Date: 2018

Variant appearance in text: BRCA1: 3813dupT; Asn1272*
PubMed Link: 29339979
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_85.pdf
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA1: 3813dupT; Asn1272Ter; rs397509108
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433-supple1.xlsx, sheet 1
View BVdb publication page