BRCA1 c.2612C>T ;(p.P871L)

Variant ID: 17-41244936-G-A

NM_007294.3(BRCA1):c.2612C>T;(p.P871L)

This variant was identified in 299 publications

View GRCh38 version.




Publications:


Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.

Cells
Biegała, Łukasz Ł; Gajek, Arkadiusz A; Marczak, Agnieszka A; Rogalska, Aneta A
Publication Date: 2023-03-29

Variant appearance in text: BRCA1: P871L
PubMed Link: 37048111
Variant Present in the following documents:
  • Main text
  • cells-12-01038.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: BRCA1: P871L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs799917
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs799917
PubMed Link: 36922933
Variant Present in the following documents:
  • Main text
  • crc-22-0136.pdf
  • crc-22-0136-s01.xlsx, sheet 2
View BVdb publication page



DNA Damage and Its Role in Cancer Therapeutics.

International Journal Of Molecular Sciences
Moon, Jaeyoung J; Kitty, Ichiwa I; Renata, Kusuma K; Qin, Sisi S; Zhao, Fei F; Kim, Wootae W
Publication Date: 2023-03-01

Variant appearance in text: BRCA1: 2612C>T
PubMed Link: 36902170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: BRCA1: P871L
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 2612C>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs799917
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
View BVdb publication page



Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Frontiers In Oncology
Chen, Dongmei D; Zhang, Chenyang C; Yuan, Mengqi M; Zhang, Ying Y; Liu, Qing Q; Wan, Donggui D
Publication Date: 2022

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu
PubMed Link: 36518309
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic variant in miR-17-92 cluster binding sites is associated with esophageal squamous cell carcinoma risk in Chinese population.

Bmc Cancer
Shen, Yi Y; Shao, Yi Y; Ruan, Xiaoli X; Zhu, Lingyan L; Zang, Zhaoping Z; Wei, Tong T; Nakyeyune, Rena R; Wei, Wenqiang W; Liu, Fen F
Publication Date: 2022-12-02

Variant appearance in text: rs799917
PubMed Link: 36461008
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10360.pdf
View BVdb publication page



Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology
Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M
Publication Date: 2022-12-02

Variant appearance in text: BRCA1: P871L
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.pdf
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: BRCA1: 2612C>T; P871L
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.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: 2612C>T; Pro871Leu
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s009.xlsx, sheet 2
  • IJC-152-1159-s009.xlsx, sheet 3
  • IJC-152-1159-s012.xlsx, sheet 1
  • IJC-152-1159-s001.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s001.xlsx, sheet 3
View BVdb publication page



Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports
Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE
Publication Date: 2022-11-03

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.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: 2612C>T; Pro871Leu; rs799917
PubMed Link: 36324133
Variant Present in the following documents:
  • 12885_2022_10160_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: BRCA1: P871L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.

Plos One
Hamid, Abdulaziz B AB; Frank, Lauren E LE; Bouley, Renee A RA; Petreaca, Ruben C RC
Publication Date: 2022

Variant appearance in text: BRCA1: P871L
PubMed Link: 36107942
Variant Present in the following documents:
  • Main text
  • pone.0273736.pdf
  • pone.0273736.s005.xlsx, sheet 6
  • pone.0273736.s005.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

World Journal Of Clinical Cases
Zhang, Xi-Wen XW; Jia, Zan-Hui ZH; Zhao, Li-Ping LP; Wu, Yi-Shi YS; Cui, Man-Hua MH; Jia, Yan Y; Xu, Tian-Min TM
Publication Date: 2022-07-16

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 36051147
Variant Present in the following documents:
  • WJCC-10-7105.pdf
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genetic Variants in Double-Strand Break Repair Pathway Genes to Predict Platinum-Based Chemotherapy Prognosis in Patients With Lung Cancer.

Frontiers In Pharmacology
Liu, Jun-Yan JY; Zou, Ting T; Yin, Ji-Ye JY; Wang, Zhan Z; Liu, Chong C; Huang, Han-Xue HX; Ding, Fei-Xiang FX; Lei, Meng-Rong MR; Wang, Ying Y; Liu, Min M; Liu, Zhao-Qian ZQ; Tan, Li-Ming LM; Chen, Juan J
Publication Date: 2022

Variant appearance in text: rs799917
PubMed Link: 35899106
Variant Present in the following documents:
  • Main text
  • fphar-13-915822.pdf
View BVdb publication page



Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Bmc Cancer
Brahim, Selma Mohamed SM; Zein, Ekht Elbenina EE; Bonnet, Crystel C; Hamed, Cheikh Tijani CT; Salame, Malak M; Zein, Mohamed Vall MV; Khyatti, Meriem M; Tolba, Ahmedou A; Houmeida, Ahmed A
Publication Date: 2022-07-20

Variant appearance in text: BRCA1: Pro871Leu; rs799917
PubMed Link: 35858847
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9903.pdf
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: P871L
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The association between single nucleotide polymorphisms and ovarian cancer risk: A systematic review and network meta-analysis.

Cancer Medicine
Hu, Jia J; Xu, Zhe Z; Ye, Zhuomiao Z; Li, Jin J; Hao, Zhinan Z; Wang, Yongjun Y
Publication Date: 2022-05-30

Variant appearance in text: rs799917
PubMed Link: 35637613
Variant Present in the following documents:
  • Main text
  • CAM4-12-541.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.

Genes
Secondino, Angela A; Starnone, Flavio F; Veneruso, Iolanda I; Di Tella, Maria Antonietta MA; Conato, Serena S; De Angelis, Carmine C; De Placido, Sabino S; D'Argenio, Valeria V
Publication Date: 2022-04-13

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 35456488
Variant Present in the following documents:
  • genes-13-00682.pdf
View BVdb publication page



Spoken and Unspoken Matters Regarding the Use of Opioids in Cancer.

Journal Of Pain Research
Baker Rogers, Janna J; Higa, Gerald M GM
Publication Date: 2022

Variant appearance in text: rs799917
PubMed Link: 35411188
Variant Present in the following documents:
  • Main text
  • jpr-15-909.pdf
View BVdb publication page



Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications
Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY
Publication Date: 2022-04-11

Variant appearance in text: BRCA1: 2612C>T
PubMed Link: 35410464
Variant Present in the following documents:
  • 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page



Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.

Journal Of Genomics
Ostrowska, Malgorzata M; Olszewska-Bozek, Karolina K; Podlodowska, Justyna J; Sierocinska-Sawa, Jadwiga J; Wojcierowski, Jacek J
Publication Date: 2022

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 35300046
Variant Present in the following documents:
  • jgenv10p0033.pdf
View BVdb publication page



Variomes: a high recall search engine to support the curation of genomic variants.

Bioinformatics (Oxford, England)
Pasche, Emilie E; Mottaz, Anaïs A; Caucheteur, Déborah D; Gobeill, Julien J; Michel, Pierre-André PA; Ruch, Patrick P
Publication Date: 2022-04-28

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu
PubMed Link: 35274687
Variant Present in the following documents:
  • Main text
  • btac146.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA1: 2612C>T; P871L; rs799917
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA1: 2612C>T; P871L
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS1.xlsx, sheet 1
View BVdb publication page



Mutational analysis of BRCA1 and BRCA2 in northwest Chinese breast cancer patients.

Translational Cancer Research
Wang, Ting T; Zhang, Juliang J; Xiao, Jingjing J; Huang, Meiling M; Li, Nanlin N; Ling, Rui R
Publication Date: 2019-09

Variant appearance in text: BRCA1: 2612C>T
PubMed Link: 35116935
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1/2 mutation spectrum in Chinese early-onset breast cancer.

Translational Cancer Research
Shen, Mengjia M; Yang, Libo L; Lei, Ting T; Xiao, Lin L; Li, Li L; Zhang, Peichuan P; Feng, Weiyi W; Ye, Feng F; Bu, Hong H
Publication Date: 2019-04

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu
PubMed Link: 35116780
Variant Present in the following documents:
  • Main text
View BVdb publication page



The clinical value of circulating tumor DNA detection in advanced non-small cell lung cancer.

Translational Cancer Research
Lin, Xiao X; Dong, Wentao W; Lai, Xiaojing X; Feng, Wei W; Yu, Xiaofu X; Gu, Qing Q; Wang, Chunyang C; Xiao, Wen W; Zheng, Xiao X
Publication Date: 2019-02

Variant appearance in text: BRCA1: 2612C>T; P871L
PubMed Link: 35116746
Variant Present in the following documents:
  • Main text
  • tcr-08-01-170.pdf
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17

Variant appearance in text: BRCA1: 2612C>T; Pro871Leu; rs799917
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Investigation on factors associated with ovarian cancer: an umbrella review of systematic review and meta-analyses.

Journal Of Ovarian Research
Tanha, Kiarash K; Mottaghi, Azadeh A; Nojomi, Marzieh M; Moradi, Marzieh M; Rajabzadeh, Rezvan R; Lotfi, Samaneh S; Janani, Leila L
Publication Date: 2021-11-11

Variant appearance in text: BRCA1: P871L
PubMed Link: 34758846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.

Human Genomics
Biancolella, Michela M; Ouédraogo, Nabonswindé Lamoussa Marie NLM; Zongo, Nayi N; Zohoncon, Théodora Mahoukèdè TM; Testa, Barbara B; Rizzacasa, Barbara B; Latini, Andrea A; Conte, Chiara C; Compaore, Tégwindé Rebeca TR; Ouedraogo, Charlemagne Marie Rayang-Newendé CMR; Traore, Si Simon SS; Simpore, Jacques J; Novelli, Giuseppe G
Publication Date: 2021-10-30

Variant appearance in text: BRCA1: Pro871Leu
PubMed Link: 34717758
Variant Present in the following documents:
  • 40246_2021_Article_365.pdf
View BVdb publication page



Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.

Human Genomics
Biancolella, Michela M; Ouédraogo, Nabonswindé Lamoussa Marie NLM; Zongo, Nayi N; Zohoncon, Théodora Mahoukèdè TM; Testa, Barbara B; Rizzacasa, Barbara B; Latini, Andrea A; Conte, Chiara C; Compaore, Tégwindé Rebeca TR; Ouedraogo, Charlemagne Marie Rayang-Newendé CMR; Traore, Si Simon SS; Simpore, Jacques J; Novelli, Giuseppe G
Publication Date: 2021-10-30

Variant appearance in text: BRCA1: Pro871Leu
PubMed Link: 34717758
Variant Present in the following documents:
  • 40246_2021_Article_365.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 6
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: BRCA1: P871L; rs799917
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 6
View BVdb publication page