BRCA1 c.5470_5477del ;(p.I1824Dfs*3)

Variant ID: 17-41197809-CTGCCCAAT-C

NM_007294.3(BRCA1):c.5470_5477del;(p.I1824Dfs*3)

This variant was identified in 56 publications

View GRCh38 version.




Publications:


HRD effects on first-line adjuvant chemotherapy and PARPi maintenance therapy in Chinese ovarian cancer patients.

Npj Precision Oncology
Li, Lei L; Gu, Yu Y; Zhang, Mengpei M; Shi, Xiaohua X; Li, Zhe Z; Xu, Xinyun X; Sun, Tianqi T; Dong, Yu Y; Xue, Chao C; Zhu, Xiaoru X; Lv, Ran R; Jiao, Kai K; Ji, Xuwo X; Wang, Li-Juan LJ; Zhang, Yang Y; Liang, Zhiyong Z; Jin, Ying Y; Yin, Rutie R; Wu, Ming M; Liang, Han H
Publication Date: 2023-05-31

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 37258600
Variant Present in the following documents:
  • Main text
  • 41698_2023_Article_402.pdf
View BVdb publication page



Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score.

Breast (Edinburgh, Scotland)
Feng, Cong C; Zhang, Yinbin Y; Wu, Fei F; Li, Jia J; Liu, Mengjie M; Lv, Wei W; Li, Chaofan C; Wang, Weiwei W; Tan, Qinghua Q; Xue, Xiaoyu X; Ma, Xingcong X; Zhang, Shuqun S
Publication Date: 2023-04-21

Variant appearance in text: BRCA1: 5470_5477del; I1824Dfs*3
PubMed Link: 37116400
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 5470_5477delATTGGGCA; Ile1824Aspfs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; Ile1824Aspfs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 5470_5477del
PubMed Link: 36753473
Variant Present in the following documents:
  • Main text
  • pone.0278010.pdf
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.

Bmc Cancer
Shao, Zhenzhen Z; Yu, Jinpu J; Cheng, Yanan Y; Ma, Wenjuan W; Liu, Peifang P; Lu, Hong H
Publication Date: 2023-01-27

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 36707770
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited mutations in Chinese patients with upper tract urothelial carcinoma.

Cell Reports. Medicine
Wu, Junlong J; Jin, Shengming S; Gu, Chengyuan C; Wei, Yu Y; Zhu, Yao Y; Necchi, Andrea A; Shariat, Shahrokh F SF; Pan, Jian J; Gan, Hualei H; Dai, Bo B; Zhang, Hailiang H; Shi, Guohai G; Zhu, Yu Y; Shen, Yijun Y; Zhu, Yiping Y; Ye, Dingwei D
Publication Date: 2022-12-23

Variant appearance in text: BRCA1: 5470_5477del; I1824fs
PubMed Link: 36630951
Variant Present in the following documents:
  • main.pdf
  • mmc5.pdf
View BVdb publication page



Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.

Journal Of Ovarian Research
Liu, Ying Y; Zhu, Jing J; Wei, Xiao X; Yang, Duoxia D; Li, Si S; Qian, Xiaoping X; Li, Li L
Publication Date: 2022-12-03

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 36463302
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview on population screening for carriers with germline BRCA mutation in China.

Frontiers In Oncology
Lei, Huijun H; Zhang, Min M; Zhang, Luyao L; Hemminki, Kari K; Wang, Xiao-Jia XJ; Chen, Tianhui T
Publication Date: 2022

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 36439508
Variant Present in the following documents:
  • Main text
  • fonc-12-1002360.pdf
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: 5470_5477del
PubMed Link: 36385461
Variant Present in the following documents:
  • Main text
  • IJC-152-1159-s007.xlsx, sheet 1
  • IJC-152-1159.pdf
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.

Bmc Cancer
Li, Yan Y; Chen, Lili L; Lv, Jinxing J; Chen, Xiaobin X; Zeng, Bangwei B; Chen, Minyan M; Guo, Wenhui W; Lin, Yuxiang Y; Yu, Liuwen L; Hou, Jialin J; Li, Jing J; Zhou, Peng P; Zhang, Wenzhe W; Li, Shengmei S; Jin, Xuan X; Cai, Weifeng W; Zhang, Kun K; Huang, Yeyuan Y; Wang, Chuan C; Fu, Fangmeng F
Publication Date: 2022-11-02

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; Ile1824Aspfs
PubMed Link: 36324133
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10160.pdf
  • 12885_2022_10160_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.

International Journal Of Molecular Sciences
Yang, Liu L; Xie, Fei F; Liu, Chang C; Zhao, Jin J; Hu, Taobo T; Wu, Jinbo J; Zhao, Xiaotao X; Wang, Shu S
Publication Date: 2022-09-24

Variant appearance in text: BRCA1: 5470_5477del; I1824Dfs*3
PubMed Link: 36232564
Variant Present in the following documents:
  • ijms-23-11266.pdf
View BVdb publication page



RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

The Journal Of Biological Chemistry
Liu, Peng P; Lin, Chunxiu C; Liu, Lanlan L; Lu, Ziwen Z; Tu, Zhigang Z; Liu, Hanqing H
Publication Date: 2022-09

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; Ile1824fs
PubMed Link: 35952757
Variant Present in the following documents:
  • mmc3.xls, sheet 3
View BVdb publication page



Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer
Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q
Publication Date: 2022-08-02

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 35918668
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9943.pdf
View BVdb publication page



Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)
Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG
Publication Date: 2022-10

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 35753294
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS5.xlsx, sheet 1
View BVdb publication page



Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer
Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X
Publication Date: 2022-05-16

Variant appearance in text: BRCA1: 5470_5477del; I1824Dfs*3
PubMed Link: 35578198
Variant Present in the following documents:
  • 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Editorial: Familial Cancer in China: From Detection to Screening and Management.

Frontiers In Oncology
Chen, Tianhui T; Yuan, Ying Y
Publication Date: 2022

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 35574380
Variant Present in the following documents:
  • fonc-12-916814.pdf
View BVdb publication page



Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.

Journal Of Oncology
Li, Ang A; Hao, Shuai S; Luo, Jiaqi J; Zi, Yi Y; Lan, Zhaoji Z; Zhou, Tianliangwen T; Zhi, Qihuan Q; Zhan, Jiamin J; Sun, Gang G; Shi, Yujian Y; Luo, Donglin D
Publication Date: 2022

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 35378767
Variant Present in the following documents:
  • JO2022-9390539.pdf
View BVdb publication page



BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Frontiers In Cell And Developmental Biology
Fu, Xiaoyu X; Tan, Wei W; Song, Qibin Q; Pei, Huadong H; Li, Juanjuan J
Publication Date: 2022

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 35300412
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; Ile1824Aspfs
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology
Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X
Publication Date: 2022

Variant appearance in text: BRCA1: 5470_5477del; Ile1824fs
PubMed Link: 35186721
Variant Present in the following documents:
  • Main text
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_2.xlsx, sheet 3
  • fonc-12-709645.pdf
View BVdb publication page



Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.

Frontiers In Oncology
Li, Jun J; Wang, Ping P; Zhang, Cuiyun C; Han, Sile S; Xiao, Han H; Liu, Zhiyuan Z; Wang, Xiaoyan X; Liu, Weiling W; Wei, Bing B; Ma, Jie J; Li, Hongle H; Guo, Yongjun Y
Publication Date: 2021

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 35087763
Variant Present in the following documents:
  • fonc-11-812656.pdf
View BVdb publication page



Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.

Frontiers In Genetics
Su, Yifan Y; Yao, Qianlan Q; Xu, Yuyin Y; Yu, Chengli C; Zhang, Jing J; Wang, Qian Q; Li, Jiwei J; Shi, Di D; Yu, Baohua B; Zeng, Yupeng Y; Zhu, Xiaoli X; Bai, Qianming Q; Zhou, Xiaoyan X
Publication Date: 2021

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 34917121
Variant Present in the following documents:
  • Main text
  • fgene-12-674094.pdf
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 5470_5477del; I1824fs
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
View BVdb publication page



Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.

Cancer Science
Paik, E Sun ES; Heo, Eun Jin EJ; Choi, Chel Hun CH; Kim, Jae-Hoon JH; Kim, Jae-Weon JW; Kim, Yong-Man YM; Park, Sang-Yoon SY; Lee, Jeong-Won JW; Kim, Jong-Won JW; Kim, Byoung-Gie BG
Publication Date: 2021-12

Variant appearance in text: BRCA1: 5470_5477del; I1824fs
PubMed Link: 34657357
Variant Present in the following documents:
  • Main text
  • CAS-112-5055.pdf
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: 5470_5477del; Ile1824Aspfs*3
PubMed Link: 34645131
Variant Present in the following documents:
  • crt-2021-791_S2_Table.pdf
View BVdb publication page



High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.

Breast Cancer (Tokyo, Japan)
Zhu, Liang L; Pan, Jia-Ni JN; Qian, Ziliang Z; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ; Cao, Wen-Ming WM
Publication Date: 2022-01

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 34403063
Variant Present in the following documents:
  • Main text
View BVdb publication page



High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.

Breast Cancer (Tokyo, Japan)
Zhu, Liang L; Pan, Jia-Ni JN; Qian, Ziliang Z; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ; Cao, Wen-Ming WM
Publication Date: 2021-08-17

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 34403063
Variant Present in the following documents:
  • Main text
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: 5470_5477delATTGGGCA; Ile1824Aspfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences
Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2021

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 34235180
Variant Present in the following documents:
  • Main text
  • fmolb-08-685174.pdf
View BVdb publication page



Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.

Frontiers In Oncology
Li, Jun J; Han, Sile S; Zhang, Cuiyun C; Luo, Yanlin Y; Wang, Li L; Wang, Ping P; Wang, Yi Y; Xia, Qingxin Q; Wang, Xiaoyan X; Wei, Bing B; Ma, Jie J; Li, Hongle H; Guo, Yongjun Y
Publication Date: 2021

Variant appearance in text: BRCA1: 5470_5477del
PubMed Link: 34046351
Variant Present in the following documents:
  • Main text
  • fonc-11-655709.pdf
View BVdb publication page



Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

Annals Of Translational Medicine
Ji, Gang G; Yao, Qianlan Q; Bao, Longlong L; Zhang, Jing J; Bai, Qianming Q; Zhu, Xiaoli X; Tu, Xiaoyu X; Bi, Rui R; Zhou, Xiaoyan X
Publication Date: 2021-03

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; Ile1824Aspfs*3
PubMed Link: 33850850
Variant Present in the following documents:
  • Main text
  • atm-09-06-453.pdf
View BVdb publication page



A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports
Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T
Publication Date: 2021-01-11

Variant appearance in text: BRCA1: 5470_5477del; I1824Dfs*3
PubMed Link: 33432021
Variant Present in the following documents:
  • 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.

Frontiers In Oncology
Huang, Xin X; Shao, Di D; Wu, Huanwen H; Zhu, Changbin C; Guo, Dan D; Zhou, Yidong Y; Chen, Chang C; Lin, Yan Y; Lu, Tao T; Zhao, Bin B; Wang, Changjun C; Sun, Qiang Q
Publication Date: 2020

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA; I1824Dfs
PubMed Link: 33194720
Variant Present in the following documents:
  • Main text
  • fonc-10-583314.pdf
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: 5470_5477delATTGGGCA
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



Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.

Biomed Research International
Jiang, Yue Y; Tian, Ting T; Yu, Chengxiao C; Zhou, Wen W; Yang, Junzhe J; Wang, Yifeng Y; Wen, Yang Y; Chen, Jiaping J; Dai, Juncheng J; Jin, Guangfu G; Ma, Hongxia H; Shen, Hongbing H; Hu, Zhibin Z
Publication Date: 2020

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 32879886
Variant Present in the following documents:
  • Main text
  • BMRI2020-6739823.pdf
View BVdb publication page



Phase I dose-escalation and expansion study of PARP inhibitor, fluzoparib (SHR3162), in patients with advanced solid tumors.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu
Li, Huiping H; Liu, Rongrui R; Shao, Bin B; Ran, Ran R; Song, Guohong G; Wang, Ke K; Shi, Yehui Y; Liu, Jihong J; Hu, Wenjing W; Chen, Fu F; Liu, Xiaoran X; Zhang, Gairong G; Zhao, Chuanhua C; Jia, Ru R; Wang, Quanren Q; Rugo, Hope S HS; Zhang, Yifan Y; Li, Guangze G; Xu, Jianming J
Publication Date: 2020-06

Variant appearance in text: BRCA1: 5470_5477delATTGGGCA
PubMed Link: 32694901
Variant Present in the following documents:
  • Main text
  • cjcr-32-3-370.pdf
View BVdb publication page



The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.

Translational Lung Cancer Research
Liu, Mengyuan M; Liu, Xinyi X; Suo, Peisu P; Gong, Yuan Y; Qu, Baolin B; Peng, Xiumei X; Xiao, Wenhua W; Li, Yuemin Y; Chen, Yan Y; Zeng, Zhen Z; Lu, Yinying Y; Huang, Tanxiao T; Zhao, Yingshen Y; Liu, Ming M; Li, Lifeng L; Chen, Yaru Y; Zhou, Yanqing Y; Liu, Guifeng G; Yao, Jianfei J; Chen, Shifu S; Song, Lele L
Publication Date: 2020-06

Variant appearance in text: N/A
PubMed Link: 32676327
Variant Present in the following documents:
View BVdb publication page