Publications:

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Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma.

Cancers

Bartow, Brooke B BB; Siegal, Gene P GP; Yalniz, Ceren C; Elkhanany, Ahmed M AM; Huo, Lei L; Ding, Qingqing Q; Sahin, Aysegul A AA; Guo, Hua H; Magi-Galluzzi, Cristina C; Harada, Shuko S; Huang, Xiao X

Publication Date: 2023-04-28

Variant appearance in text: BRCA1: K1183R

PubMed Link: 37173992

Variant Present in the following documents:

• cancers-15-02524.pdf

View BVdb publication page

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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: K1183R

PubMed Link: 37048111

Variant Present in the following documents:

• Main text
• cells-12-01038.pdf

View BVdb publication page

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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: K1183R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine

Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D

Publication Date: 2023-03-11

Variant appearance in text: BRCA1: 3548A>G; K1183R

PubMed Link: 36983691

Variant Present in the following documents:

• Main text
• jpm-13-00508.pdf

View BVdb publication page

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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: rs16942

PubMed Link: 36922933

Variant Present in the following documents:

• Main text
• crc-22-0136-s01.xlsx, sheet 2
• crc-22-0136.pdf

View BVdb publication page

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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: K1183R

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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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: K1183R; rs16942

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs16942

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg

PubMed Link: 36518309

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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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: K1183R; rs16942

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: K1183R

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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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: 3548A>G; K1183R; rs16942

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s009.xlsx, sheet 2
• IJC-152-1159-s012.xlsx, sheet 1
• IJC-152-1159-s009.xlsx, sheet 3
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s001.xlsx, sheet 3

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: BRCA1: 3548A>G; K1183R

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 36324133

Variant Present in the following documents:

• 12885_2022_10160_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: K1183R

PubMed Link: 36241656

Variant Present in the following documents:

• 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_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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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: K1183R

PubMed Link: 36107942

Variant Present in the following documents:

• Main text
• pone.0273736.s005.xlsx, sheet 6
• pone.0273736.s005.xlsx, sheet 3
• pone.0273736.pdf

View BVdb publication page

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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: K1183R; rs16942

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

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 36051147

Variant Present in the following documents:

• WJCC-10-7105.pdf

View BVdb publication page

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Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.

Ethiopian Journal Of Health Sciences

Kiendrebeogo, Isabelle T IT; Zoure, Abdou A AA; Zongo, Fabienne I FI; Ouedraogo, Serge Y SY; Sawadogo, Alexis Y AY; Amegnona, Jospin J; Sombie, Herman K HK; Bazie, Jean T Valérie Elvira JTVE; Sorgho, Pegdwendé A PA; Yonli, Albert T AT; Ouedraogo, Marie N Lamoussa MNL; Obiri-Yeboah, Dorcas D; Zongo, Nayi N; Bambara, Hierrhum A HA; Simpore, Jacques J

Publication Date: 2022-07

Variant appearance in text: BRCA1: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 35950060

Variant Present in the following documents:

• EJHS3204-0699.pdf

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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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: K1183R

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: BRCA1: 3548A>G; K1183R

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 35456488

Variant Present in the following documents:

• genes-13-00682.pdf

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 35300046

Variant Present in the following documents:

• jgenv10p0033.pdf

View BVdb publication page

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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: 3548A>G; K1183R; rs16942

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; rs16942

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg

PubMed Link: 35116780

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3548A>G; K1183R

PubMed Link: 35116746

Variant Present in the following documents:

• Main text
• tcr-08-01-170.pdf

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: BRCA1: Lys1183Arg; rs16942

PubMed Link: 35112701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: BRCA1: Lys1183Arg; rs16942

PubMed Link: 35112701

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: BRCA1: K1183R

PubMed Link: 35000471

Variant Present in the following documents:

• Main text
• 10.1177_03000605211070757.pdf

View BVdb publication page

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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: BRCA1: K1183R

PubMed Link: 35000471

Variant Present in the following documents:

• Main text
• 10.1177_03000605211070757.pdf

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: Lys1183Arg

PubMed Link: 34717758

Variant Present in the following documents:

• 40246_2021_Article_365.pdf

View BVdb publication page

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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: Lys1183Arg

PubMed Link: 34717758

Variant Present in the following documents:

• 40246_2021_Article_365.pdf

View BVdb publication page

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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: K1183R; rs16942

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

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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: K1183R; rs16942

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11

View BVdb publication page

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The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-Related Cancer

Venizelos, Andreas A; Elvebakken, Hege H; Perren, Aurel A; Nikolaienko, Oleksii O; Deng, Wei W; Lothe, Inger Marie B IMB; Couvelard, Anne A; Hjortland, Geir Olav GO; Sundlöv, Anna A; Svensson, Johanna J; Garresori, Harrish H; Kersten, Christian C; Hofsli, Eva E; Detlefsen, Sönke S; Krogh, Merete M; Sorbye, Halfdan H; Knappskog, Stian S

Publication Date: 2021-11-11

Variant appearance in text: BRCA1: K1183R

PubMed Link: 34647903

Variant Present in the following documents:

• supplementary_table_4.xlsx, sheet 2

View BVdb publication page

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NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

Scientific Reports

Tomioka, Keita K; Miyamoto, Tatsuo T; Akutsu, Silvia Natsuko SN; Yanagihara, Hiromi H; Fujita, Kazumasa K; Royba, Ekaterina E; Tauchi, Hiroshi H; Yamamoto, Takashi T; Koh, Iemasa I; Hirata, Eiji E; Kudo, Yoshiki Y; Kobayashi, Masao M; Okada, Satoshi S; Matsuura, Shinya S

Publication Date: 2021-10-04

Variant appearance in text: BRCA1: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 34608183

Variant Present in the following documents:

• Main text
• 41598_2021_Article_98673.pdf

View BVdb publication page

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Germline and Somatic mutations in postmenopausal breast cancer patients.

Clinics (Sao Paulo, Brazil)

Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2021

Variant appearance in text: BRCA1: 3548A>G; Lys1183Arg; rs16942

PubMed Link: 34287479

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence and Mortality of Triple-Negative Breast Cancer in West Africa: Biologic and Sociocultural Factors.

Jco Global Oncology

Nwagu, Gift C GC; Bhattarai, Shristi S; Swahn, Monica M; Ahmed, Saad S; Aneja, Ritu R

Publication Date: 2021-07

Variant appearance in text: BRCA1: Lys1183Arg

PubMed Link: 34264759

Variant Present in the following documents:

• go-7-go.21.00082.pdf

View BVdb publication page

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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: 3548A>G; K1183R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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